A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study wa...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Sandro Michelini [verfasserIn] Karen L. Herbst [verfasserIn] Vincenza Precone [verfasserIn] Elena Manara [verfasserIn] Giuseppe Marceddu [verfasserIn] Astrit Dautaj [verfasserIn] Paolo Enrico Maltese [verfasserIn] Stefano Paolacci [verfasserIn] Maria Rachele Ceccarini [verfasserIn] Tommaso Beccari [verfasserIn] Elisa Sorrentino [verfasserIn] Barbara Aquilanti [verfasserIn] Valeria Velluti [verfasserIn] Giuseppina Matera [verfasserIn] Lucilla Gagliardi [verfasserIn] Giacinto Abele Donato Miggiano [verfasserIn] Matteo Bertelli [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2022 |
|---|
| Schlagwörter: |
|---|
| Übergeordnetes Werk: |
In: Journal of Personalized Medicine - MDPI AG, 2012, 12(2022), 2, p 268 |
|---|---|
| Übergeordnetes Werk: |
volume:12 ; year:2022 ; number:2, p 268 |
| Links: |
|---|
| DOI / URN: |
10.3390/jpm12020268 |
|---|
| Katalog-ID: |
DOAJ086766244 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | DOAJ086766244 | ||
| 003 | DE-627 | ||
| 005 | 20240414184632.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230311s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3390/jpm12020268 |2 doi | |
| 035 | |a (DE-627)DOAJ086766244 | ||
| 035 | |a (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 0 | |a Sandro Michelini |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. | ||
| 650 | 4 | |a subcutaneaous fat tissue accumulation | |
| 650 | 4 | |a lipedema | |
| 650 | 4 | |a partial lipodystrophy | |
| 650 | 4 | |a NGS | |
| 653 | 0 | |a Medicine | |
| 653 | 0 | |a R | |
| 700 | 0 | |a Karen L. Herbst |e verfasserin |4 aut | |
| 700 | 0 | |a Vincenza Precone |e verfasserin |4 aut | |
| 700 | 0 | |a Elena Manara |e verfasserin |4 aut | |
| 700 | 0 | |a Giuseppe Marceddu |e verfasserin |4 aut | |
| 700 | 0 | |a Astrit Dautaj |e verfasserin |4 aut | |
| 700 | 0 | |a Paolo Enrico Maltese |e verfasserin |4 aut | |
| 700 | 0 | |a Stefano Paolacci |e verfasserin |4 aut | |
| 700 | 0 | |a Maria Rachele Ceccarini |e verfasserin |4 aut | |
| 700 | 0 | |a Tommaso Beccari |e verfasserin |4 aut | |
| 700 | 0 | |a Elisa Sorrentino |e verfasserin |4 aut | |
| 700 | 0 | |a Barbara Aquilanti |e verfasserin |4 aut | |
| 700 | 0 | |a Valeria Velluti |e verfasserin |4 aut | |
| 700 | 0 | |a Giuseppina Matera |e verfasserin |4 aut | |
| 700 | 0 | |a Lucilla Gagliardi |e verfasserin |4 aut | |
| 700 | 0 | |a Giacinto Abele Donato Miggiano |e verfasserin |4 aut | |
| 700 | 0 | |a Matteo Bertelli |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i In |t Journal of Personalized Medicine |d MDPI AG, 2012 |g 12(2022), 2, p 268 |w (DE-627)71862713X |w (DE-600)2662248-8 |x 20754426 |7 nnns |
| 773 | 1 | 8 | |g volume:12 |g year:2022 |g number:2, p 268 |
| 856 | 4 | 0 | |u https://doi.org/10.3390/jpm12020268 |z kostenfrei |
| 856 | 4 | 0 | |u https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 |z kostenfrei |
| 856 | 4 | 0 | |u https://www.mdpi.com/2075-4426/12/2/268 |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/2075-4426 |y Journal toc |z kostenfrei |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a SYSFLAG_A | ||
| 912 | |a GBV_DOAJ | ||
| 912 | |a GBV_ILN_20 | ||
| 912 | |a GBV_ILN_22 | ||
| 912 | |a GBV_ILN_23 | ||
| 912 | |a GBV_ILN_24 | ||
| 912 | |a GBV_ILN_39 | ||
| 912 | |a GBV_ILN_40 | ||
| 912 | |a GBV_ILN_60 | ||
| 912 | |a GBV_ILN_62 | ||
| 912 | |a GBV_ILN_63 | ||
| 912 | |a GBV_ILN_65 | ||
| 912 | |a GBV_ILN_69 | ||
| 912 | |a GBV_ILN_73 | ||
| 912 | |a GBV_ILN_74 | ||
| 912 | |a GBV_ILN_95 | ||
| 912 | |a GBV_ILN_105 | ||
| 912 | |a GBV_ILN_110 | ||
| 912 | |a GBV_ILN_151 | ||
| 912 | |a GBV_ILN_161 | ||
| 912 | |a GBV_ILN_170 | ||
| 912 | |a GBV_ILN_206 | ||
| 912 | |a GBV_ILN_213 | ||
| 912 | |a GBV_ILN_230 | ||
| 912 | |a GBV_ILN_285 | ||
| 912 | |a GBV_ILN_293 | ||
| 912 | |a GBV_ILN_602 | ||
| 912 | |a GBV_ILN_2014 | ||
| 912 | |a GBV_ILN_4012 | ||
| 912 | |a GBV_ILN_4037 | ||
| 912 | |a GBV_ILN_4112 | ||
| 912 | |a GBV_ILN_4125 | ||
| 912 | |a GBV_ILN_4126 | ||
| 912 | |a GBV_ILN_4249 | ||
| 912 | |a GBV_ILN_4305 | ||
| 912 | |a GBV_ILN_4306 | ||
| 912 | |a GBV_ILN_4307 | ||
| 912 | |a GBV_ILN_4313 | ||
| 912 | |a GBV_ILN_4322 | ||
| 912 | |a GBV_ILN_4323 | ||
| 912 | |a GBV_ILN_4324 | ||
| 912 | |a GBV_ILN_4325 | ||
| 912 | |a GBV_ILN_4338 | ||
| 912 | |a GBV_ILN_4367 | ||
| 912 | |a GBV_ILN_4700 | ||
| 951 | |a AR | ||
| 952 | |d 12 |j 2022 |e 2, p 268 | ||
| author_variant |
s m sm k l h klh v p vp e m em g m gm a d ad p e m pem s p sp m r c mrc t b tb e s es b a ba v v vv g m gm l g lg g a d m gadm m b mb |
|---|---|
| matchkey_str |
article:20754426:2022----::mlieeaetietflpdmpeipsngntcainsynxg |
| hierarchy_sort_str |
2022 |
| publishDate |
2022 |
| allfields |
10.3390/jpm12020268 doi (DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 DE-627 ger DE-627 rakwb eng Sandro Michelini verfasserin aut A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R Karen L. Herbst verfasserin aut Vincenza Precone verfasserin aut Elena Manara verfasserin aut Giuseppe Marceddu verfasserin aut Astrit Dautaj verfasserin aut Paolo Enrico Maltese verfasserin aut Stefano Paolacci verfasserin aut Maria Rachele Ceccarini verfasserin aut Tommaso Beccari verfasserin aut Elisa Sorrentino verfasserin aut Barbara Aquilanti verfasserin aut Valeria Velluti verfasserin aut Giuseppina Matera verfasserin aut Lucilla Gagliardi verfasserin aut Giacinto Abele Donato Miggiano verfasserin aut Matteo Bertelli verfasserin aut In Journal of Personalized Medicine MDPI AG, 2012 12(2022), 2, p 268 (DE-627)71862713X (DE-600)2662248-8 20754426 nnns volume:12 year:2022 number:2, p 268 https://doi.org/10.3390/jpm12020268 kostenfrei https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 kostenfrei https://www.mdpi.com/2075-4426/12/2/268 kostenfrei https://doaj.org/toc/2075-4426 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 2, p 268 |
| spelling |
10.3390/jpm12020268 doi (DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 DE-627 ger DE-627 rakwb eng Sandro Michelini verfasserin aut A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R Karen L. Herbst verfasserin aut Vincenza Precone verfasserin aut Elena Manara verfasserin aut Giuseppe Marceddu verfasserin aut Astrit Dautaj verfasserin aut Paolo Enrico Maltese verfasserin aut Stefano Paolacci verfasserin aut Maria Rachele Ceccarini verfasserin aut Tommaso Beccari verfasserin aut Elisa Sorrentino verfasserin aut Barbara Aquilanti verfasserin aut Valeria Velluti verfasserin aut Giuseppina Matera verfasserin aut Lucilla Gagliardi verfasserin aut Giacinto Abele Donato Miggiano verfasserin aut Matteo Bertelli verfasserin aut In Journal of Personalized Medicine MDPI AG, 2012 12(2022), 2, p 268 (DE-627)71862713X (DE-600)2662248-8 20754426 nnns volume:12 year:2022 number:2, p 268 https://doi.org/10.3390/jpm12020268 kostenfrei https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 kostenfrei https://www.mdpi.com/2075-4426/12/2/268 kostenfrei https://doaj.org/toc/2075-4426 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 2, p 268 |
| allfields_unstemmed |
10.3390/jpm12020268 doi (DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 DE-627 ger DE-627 rakwb eng Sandro Michelini verfasserin aut A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R Karen L. Herbst verfasserin aut Vincenza Precone verfasserin aut Elena Manara verfasserin aut Giuseppe Marceddu verfasserin aut Astrit Dautaj verfasserin aut Paolo Enrico Maltese verfasserin aut Stefano Paolacci verfasserin aut Maria Rachele Ceccarini verfasserin aut Tommaso Beccari verfasserin aut Elisa Sorrentino verfasserin aut Barbara Aquilanti verfasserin aut Valeria Velluti verfasserin aut Giuseppina Matera verfasserin aut Lucilla Gagliardi verfasserin aut Giacinto Abele Donato Miggiano verfasserin aut Matteo Bertelli verfasserin aut In Journal of Personalized Medicine MDPI AG, 2012 12(2022), 2, p 268 (DE-627)71862713X (DE-600)2662248-8 20754426 nnns volume:12 year:2022 number:2, p 268 https://doi.org/10.3390/jpm12020268 kostenfrei https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 kostenfrei https://www.mdpi.com/2075-4426/12/2/268 kostenfrei https://doaj.org/toc/2075-4426 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 2, p 268 |
| allfieldsGer |
10.3390/jpm12020268 doi (DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 DE-627 ger DE-627 rakwb eng Sandro Michelini verfasserin aut A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R Karen L. Herbst verfasserin aut Vincenza Precone verfasserin aut Elena Manara verfasserin aut Giuseppe Marceddu verfasserin aut Astrit Dautaj verfasserin aut Paolo Enrico Maltese verfasserin aut Stefano Paolacci verfasserin aut Maria Rachele Ceccarini verfasserin aut Tommaso Beccari verfasserin aut Elisa Sorrentino verfasserin aut Barbara Aquilanti verfasserin aut Valeria Velluti verfasserin aut Giuseppina Matera verfasserin aut Lucilla Gagliardi verfasserin aut Giacinto Abele Donato Miggiano verfasserin aut Matteo Bertelli verfasserin aut In Journal of Personalized Medicine MDPI AG, 2012 12(2022), 2, p 268 (DE-627)71862713X (DE-600)2662248-8 20754426 nnns volume:12 year:2022 number:2, p 268 https://doi.org/10.3390/jpm12020268 kostenfrei https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 kostenfrei https://www.mdpi.com/2075-4426/12/2/268 kostenfrei https://doaj.org/toc/2075-4426 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 2, p 268 |
| allfieldsSound |
10.3390/jpm12020268 doi (DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 DE-627 ger DE-627 rakwb eng Sandro Michelini verfasserin aut A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R Karen L. Herbst verfasserin aut Vincenza Precone verfasserin aut Elena Manara verfasserin aut Giuseppe Marceddu verfasserin aut Astrit Dautaj verfasserin aut Paolo Enrico Maltese verfasserin aut Stefano Paolacci verfasserin aut Maria Rachele Ceccarini verfasserin aut Tommaso Beccari verfasserin aut Elisa Sorrentino verfasserin aut Barbara Aquilanti verfasserin aut Valeria Velluti verfasserin aut Giuseppina Matera verfasserin aut Lucilla Gagliardi verfasserin aut Giacinto Abele Donato Miggiano verfasserin aut Matteo Bertelli verfasserin aut In Journal of Personalized Medicine MDPI AG, 2012 12(2022), 2, p 268 (DE-627)71862713X (DE-600)2662248-8 20754426 nnns volume:12 year:2022 number:2, p 268 https://doi.org/10.3390/jpm12020268 kostenfrei https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 kostenfrei https://www.mdpi.com/2075-4426/12/2/268 kostenfrei https://doaj.org/toc/2075-4426 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2022 2, p 268 |
| language |
English |
| source |
In Journal of Personalized Medicine 12(2022), 2, p 268 volume:12 year:2022 number:2, p 268 |
| sourceStr |
In Journal of Personalized Medicine 12(2022), 2, p 268 volume:12 year:2022 number:2, p 268 |
| format_phy_str_mv |
Article |
| institution |
findex.gbv.de |
| topic_facet |
subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS Medicine R |
| isfreeaccess_bool |
true |
| container_title |
Journal of Personalized Medicine |
| authorswithroles_txt_mv |
Sandro Michelini @@aut@@ Karen L. Herbst @@aut@@ Vincenza Precone @@aut@@ Elena Manara @@aut@@ Giuseppe Marceddu @@aut@@ Astrit Dautaj @@aut@@ Paolo Enrico Maltese @@aut@@ Stefano Paolacci @@aut@@ Maria Rachele Ceccarini @@aut@@ Tommaso Beccari @@aut@@ Elisa Sorrentino @@aut@@ Barbara Aquilanti @@aut@@ Valeria Velluti @@aut@@ Giuseppina Matera @@aut@@ Lucilla Gagliardi @@aut@@ Giacinto Abele Donato Miggiano @@aut@@ Matteo Bertelli @@aut@@ |
| publishDateDaySort_date |
2022-01-01T00:00:00Z |
| hierarchy_top_id |
71862713X |
| id |
DOAJ086766244 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ086766244</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414184632.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230311s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3390/jpm12020268</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ086766244</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Sandro Michelini</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">subcutaneaous fat tissue accumulation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">lipedema</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">partial lipodystrophy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">NGS</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Karen L. Herbst</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Vincenza Precone</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Elena Manara</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giuseppe Marceddu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Astrit Dautaj</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Paolo Enrico Maltese</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefano Paolacci</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Maria Rachele Ceccarini</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Tommaso Beccari</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Elisa Sorrentino</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Barbara Aquilanti</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Valeria Velluti</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giuseppina Matera</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lucilla Gagliardi</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giacinto Abele Donato Miggiano</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Matteo Bertelli</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Journal of Personalized Medicine</subfield><subfield code="d">MDPI AG, 2012</subfield><subfield code="g">12(2022), 2, p 268</subfield><subfield code="w">(DE-627)71862713X</subfield><subfield code="w">(DE-600)2662248-8</subfield><subfield code="x">20754426</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:12</subfield><subfield code="g">year:2022</subfield><subfield code="g">number:2, p 268</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.3390/jpm12020268</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://www.mdpi.com/2075-4426/12/2/268</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2075-4426</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">12</subfield><subfield code="j">2022</subfield><subfield code="e">2, p 268</subfield></datafield></record></collection>
|
| author |
Sandro Michelini |
| spellingShingle |
Sandro Michelini misc subcutaneaous fat tissue accumulation misc lipedema misc partial lipodystrophy misc NGS misc Medicine misc R A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| authorStr |
Sandro Michelini |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)71862713X |
| format |
electronic Article |
| delete_txt_mv |
keep |
| author_role |
aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut aut |
| collection |
DOAJ |
| remote_str |
true |
| illustrated |
Not Illustrated |
| issn |
20754426 |
| topic_title |
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy subcutaneaous fat tissue accumulation lipedema partial lipodystrophy NGS |
| topic |
misc subcutaneaous fat tissue accumulation misc lipedema misc partial lipodystrophy misc NGS misc Medicine misc R |
| topic_unstemmed |
misc subcutaneaous fat tissue accumulation misc lipedema misc partial lipodystrophy misc NGS misc Medicine misc R |
| topic_browse |
misc subcutaneaous fat tissue accumulation misc lipedema misc partial lipodystrophy misc NGS misc Medicine misc R |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
cr |
| hierarchy_parent_title |
Journal of Personalized Medicine |
| hierarchy_parent_id |
71862713X |
| hierarchy_top_title |
Journal of Personalized Medicine |
| isfreeaccess_txt |
true |
| familylinks_str_mv |
(DE-627)71862713X (DE-600)2662248-8 |
| title |
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| ctrlnum |
(DE-627)DOAJ086766244 (DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6 |
| title_full |
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| author_sort |
Sandro Michelini |
| journal |
Journal of Personalized Medicine |
| journalStr |
Journal of Personalized Medicine |
| lang_code |
eng |
| isOA_bool |
true |
| recordtype |
marc |
| publishDateSort |
2022 |
| contenttype_str_mv |
txt |
| author_browse |
Sandro Michelini Karen L. Herbst Vincenza Precone Elena Manara Giuseppe Marceddu Astrit Dautaj Paolo Enrico Maltese Stefano Paolacci Maria Rachele Ceccarini Tommaso Beccari Elisa Sorrentino Barbara Aquilanti Valeria Velluti Giuseppina Matera Lucilla Gagliardi Giacinto Abele Donato Miggiano Matteo Bertelli |
| container_volume |
12 |
| format_se |
Elektronische Aufsätze |
| author-letter |
Sandro Michelini |
| doi_str_mv |
10.3390/jpm12020268 |
| author2-role |
verfasserin |
| title_sort |
multi-gene panel to identify lipedema-predisposing genetic variants by a next-generation sequencing strategy |
| title_auth |
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| abstract |
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. |
| abstractGer |
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. |
| abstract_unstemmed |
Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation. |
| collection_details |
GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 |
| container_issue |
2, p 268 |
| title_short |
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy |
| url |
https://doi.org/10.3390/jpm12020268 https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6 https://www.mdpi.com/2075-4426/12/2/268 https://doaj.org/toc/2075-4426 |
| remote_bool |
true |
| author2 |
Karen L. Herbst Vincenza Precone Elena Manara Giuseppe Marceddu Astrit Dautaj Paolo Enrico Maltese Stefano Paolacci Maria Rachele Ceccarini Tommaso Beccari Elisa Sorrentino Barbara Aquilanti Valeria Velluti Giuseppina Matera Lucilla Gagliardi Giacinto Abele Donato Miggiano Matteo Bertelli |
| author2Str |
Karen L. Herbst Vincenza Precone Elena Manara Giuseppe Marceddu Astrit Dautaj Paolo Enrico Maltese Stefano Paolacci Maria Rachele Ceccarini Tommaso Beccari Elisa Sorrentino Barbara Aquilanti Valeria Velluti Giuseppina Matera Lucilla Gagliardi Giacinto Abele Donato Miggiano Matteo Bertelli |
| ppnlink |
71862713X |
| mediatype_str_mv |
c |
| isOA_txt |
true |
| hochschulschrift_bool |
false |
| doi_str |
10.3390/jpm12020268 |
| up_date |
2024-07-03T22:38:28.890Z |
| _version_ |
1803599278392737792 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ086766244</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240414184632.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230311s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.3390/jpm12020268</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ086766244</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ6ab2a0c3ae4d4abe87984d596c8110e6</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Sandro Michelini</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Lipedema is a disabling disease characterized by symmetric enlargement of the lower and/or upper limbs due to deposits of subcutaneous fat, that is easily misdiagnosed. Lipedema can be primary or syndromic, and can be the main feature of phenotypically overlapping disorders. The aim of this study was to design a next-generation sequencing (NGS) panel to help in the diagnosis of lipedema by identifying genes specific for lipedema but also genes for overlapping diseases, and targets for tailored treatments. We developed an NGS gene panel consisting of 305 genes potentially associated with lipedema and putative overlapping diseases relevant to lipedema. The genomes of 162 Italian and American patients with lipedema were sequenced. Twenty-one deleterious variants, according to 3 out of 5 predictors, were detected in <i<PLIN1</i<, <i<LIPE</i<, <i<ALDH18A1</i<, <i<PPARG</i<, <i<GHR</i<, <i<INSR</i<, <i<RYR1</i<, <i<NPC1</i<, <i<POMC</i<, <i<NR0B2</i<, <i<GCKR</i<, <i<PPARA</i< in 17 patients. This extended NGS-based approach has identified a number of gene variants that may be important in the diagnosis of lipedema, that may affect the phenotypic presentation of lipedema or that may cause disorders that could be confused with lipedema. This tool may be important for the diagnosis and treatment of people with pathologic subcutaneous fat tissue accumulation.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">subcutaneaous fat tissue accumulation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">lipedema</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">partial lipodystrophy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">NGS</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Karen L. Herbst</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Vincenza Precone</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Elena Manara</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giuseppe Marceddu</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Astrit Dautaj</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Paolo Enrico Maltese</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Stefano Paolacci</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Maria Rachele Ceccarini</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Tommaso Beccari</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Elisa Sorrentino</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Barbara Aquilanti</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Valeria Velluti</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giuseppina Matera</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Lucilla Gagliardi</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Giacinto Abele Donato Miggiano</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Matteo Bertelli</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">In</subfield><subfield code="t">Journal of Personalized Medicine</subfield><subfield code="d">MDPI AG, 2012</subfield><subfield code="g">12(2022), 2, p 268</subfield><subfield code="w">(DE-627)71862713X</subfield><subfield code="w">(DE-600)2662248-8</subfield><subfield code="x">20754426</subfield><subfield code="7">nnns</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:12</subfield><subfield code="g">year:2022</subfield><subfield code="g">number:2, p 268</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.3390/jpm12020268</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doaj.org/article/6ab2a0c3ae4d4abe87984d596c8110e6</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://www.mdpi.com/2075-4426/12/2/268</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="856" ind1="4" ind2="2"><subfield code="u">https://doaj.org/toc/2075-4426</subfield><subfield code="y">Journal toc</subfield><subfield code="z">kostenfrei</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_A</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_DOAJ</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_20</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_22</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_23</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_24</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_39</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_40</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_60</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_62</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_63</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_65</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_69</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_73</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_74</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_95</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_105</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_110</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_151</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_161</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_170</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_206</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_213</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_230</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_285</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_293</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_602</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_2014</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4012</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4037</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4112</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4125</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4126</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4249</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4305</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4306</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4307</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4313</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4322</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4323</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4324</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4325</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4338</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4367</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_4700</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">12</subfield><subfield code="j">2022</subfield><subfield code="e">2, p 268</subfield></datafield></record></collection>
|
| score |
7.399846 |