A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonse...
Ausführliche Beschreibung
Autor*in: |
Celia Zazo Seco [verfasserIn] Anna Castells-Nobau [verfasserIn] Seol-hee Joo [verfasserIn] Margit Schraders [verfasserIn] Jia Nee Foo [verfasserIn] Monique van der Voet [verfasserIn] S. Sendhil Velan [verfasserIn] Bonnie Nijhof [verfasserIn] Jaap Oostrik [verfasserIn] Erik de Vrieze [verfasserIn] Radoslaw Katana [verfasserIn] Atika Mansoor [verfasserIn] Martijn Huynen [verfasserIn] Radek Szklarczyk [verfasserIn] Martin Oti [verfasserIn] Lisbeth Tranebjærg [verfasserIn] Erwin van Wijk [verfasserIn] Jolanda M. Scheffer-de Gooyert [verfasserIn] Saadat Siddique [verfasserIn] Jonathan Baets [verfasserIn] Peter de Jonghe [verfasserIn] Syed Ali Raza Kazmi [verfasserIn] Suresh Anand Sadananthan [verfasserIn] Bart P. van de Warrenburg [verfasserIn] Chiea Chuen Khor [verfasserIn] Martin C. Göpfert [verfasserIn] Raheel Qamar [verfasserIn] Annette Schenck [verfasserIn] Hannie Kremer [verfasserIn] Saima Siddiqi [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2017 |
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Übergeordnetes Werk: |
In: Disease Models & Mechanisms - The Company of Biologists, 2011, 10(2017), 2, Seite 105-118 |
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Übergeordnetes Werk: |
volume:10 ; year:2017 ; number:2 ; pages:105-118 |
Links: |
Link aufrufen |
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DOI / URN: |
10.1242/dmm.026476 |
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Katalog-ID: |
DOAJ068931212 |
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520 | |a A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. | ||
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10.1242/dmm.026476 doi (DE-627)DOAJ068931212 (DE-599)DOAJ61e74f9ef396439ebd381addcbedf971 DE-627 ger DE-627 rakwb eng RB1-214 Celia Zazo Seco verfasserin aut A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia Medicine R Pathology Anna Castells-Nobau verfasserin aut Seol-hee Joo verfasserin aut Margit Schraders verfasserin aut Jia Nee Foo verfasserin aut Monique van der Voet verfasserin aut S. Sendhil Velan verfasserin aut Bonnie Nijhof verfasserin aut Jaap Oostrik verfasserin aut Erik de Vrieze verfasserin aut Radoslaw Katana verfasserin aut Atika Mansoor verfasserin aut Martijn Huynen verfasserin aut Radek Szklarczyk verfasserin aut Martin Oti verfasserin aut Lisbeth Tranebjærg verfasserin aut Erwin van Wijk verfasserin aut Jolanda M. Scheffer-de Gooyert verfasserin aut Saadat Siddique verfasserin aut Jonathan Baets verfasserin aut Peter de Jonghe verfasserin aut Syed Ali Raza Kazmi verfasserin aut Suresh Anand Sadananthan verfasserin aut Bart P. van de Warrenburg verfasserin aut Chiea Chuen Khor verfasserin aut Martin C. Göpfert verfasserin aut Raheel Qamar verfasserin aut Annette Schenck verfasserin aut Hannie Kremer verfasserin aut Saima Siddiqi verfasserin aut In Disease Models & Mechanisms The Company of Biologists, 2011 10(2017), 2, Seite 105-118 (DE-627)578531917 (DE-600)2451104-3 17548411 nnns volume:10 year:2017 number:2 pages:105-118 https://doi.org/10.1242/dmm.026476 kostenfrei https://doaj.org/article/61e74f9ef396439ebd381addcbedf971 kostenfrei http://dmm.biologists.org/content/10/2/105 kostenfrei https://doaj.org/toc/1754-8403 Journal toc kostenfrei https://doaj.org/toc/1754-8411 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_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 10 2017 2 105-118 |
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10.1242/dmm.026476 doi (DE-627)DOAJ068931212 (DE-599)DOAJ61e74f9ef396439ebd381addcbedf971 DE-627 ger DE-627 rakwb eng RB1-214 Celia Zazo Seco verfasserin aut A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia Medicine R Pathology Anna Castells-Nobau verfasserin aut Seol-hee Joo verfasserin aut Margit Schraders verfasserin aut Jia Nee Foo verfasserin aut Monique van der Voet verfasserin aut S. Sendhil Velan verfasserin aut Bonnie Nijhof verfasserin aut Jaap Oostrik verfasserin aut Erik de Vrieze verfasserin aut Radoslaw Katana verfasserin aut Atika Mansoor verfasserin aut Martijn Huynen verfasserin aut Radek Szklarczyk verfasserin aut Martin Oti verfasserin aut Lisbeth Tranebjærg verfasserin aut Erwin van Wijk verfasserin aut Jolanda M. Scheffer-de Gooyert verfasserin aut Saadat Siddique verfasserin aut Jonathan Baets verfasserin aut Peter de Jonghe verfasserin aut Syed Ali Raza Kazmi verfasserin aut Suresh Anand Sadananthan verfasserin aut Bart P. van de Warrenburg verfasserin aut Chiea Chuen Khor verfasserin aut Martin C. Göpfert verfasserin aut Raheel Qamar verfasserin aut Annette Schenck verfasserin aut Hannie Kremer verfasserin aut Saima Siddiqi verfasserin aut In Disease Models & Mechanisms The Company of Biologists, 2011 10(2017), 2, Seite 105-118 (DE-627)578531917 (DE-600)2451104-3 17548411 nnns volume:10 year:2017 number:2 pages:105-118 https://doi.org/10.1242/dmm.026476 kostenfrei https://doaj.org/article/61e74f9ef396439ebd381addcbedf971 kostenfrei http://dmm.biologists.org/content/10/2/105 kostenfrei https://doaj.org/toc/1754-8403 Journal toc kostenfrei https://doaj.org/toc/1754-8411 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_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 10 2017 2 105-118 |
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10.1242/dmm.026476 doi (DE-627)DOAJ068931212 (DE-599)DOAJ61e74f9ef396439ebd381addcbedf971 DE-627 ger DE-627 rakwb eng RB1-214 Celia Zazo Seco verfasserin aut A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia Medicine R Pathology Anna Castells-Nobau verfasserin aut Seol-hee Joo verfasserin aut Margit Schraders verfasserin aut Jia Nee Foo verfasserin aut Monique van der Voet verfasserin aut S. Sendhil Velan verfasserin aut Bonnie Nijhof verfasserin aut Jaap Oostrik verfasserin aut Erik de Vrieze verfasserin aut Radoslaw Katana verfasserin aut Atika Mansoor verfasserin aut Martijn Huynen verfasserin aut Radek Szklarczyk verfasserin aut Martin Oti verfasserin aut Lisbeth Tranebjærg verfasserin aut Erwin van Wijk verfasserin aut Jolanda M. Scheffer-de Gooyert verfasserin aut Saadat Siddique verfasserin aut Jonathan Baets verfasserin aut Peter de Jonghe verfasserin aut Syed Ali Raza Kazmi verfasserin aut Suresh Anand Sadananthan verfasserin aut Bart P. van de Warrenburg verfasserin aut Chiea Chuen Khor verfasserin aut Martin C. Göpfert verfasserin aut Raheel Qamar verfasserin aut Annette Schenck verfasserin aut Hannie Kremer verfasserin aut Saima Siddiqi verfasserin aut In Disease Models & Mechanisms The Company of Biologists, 2011 10(2017), 2, Seite 105-118 (DE-627)578531917 (DE-600)2451104-3 17548411 nnns volume:10 year:2017 number:2 pages:105-118 https://doi.org/10.1242/dmm.026476 kostenfrei https://doaj.org/article/61e74f9ef396439ebd381addcbedf971 kostenfrei http://dmm.biologists.org/content/10/2/105 kostenfrei https://doaj.org/toc/1754-8403 Journal toc kostenfrei https://doaj.org/toc/1754-8411 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_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 10 2017 2 105-118 |
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10.1242/dmm.026476 doi (DE-627)DOAJ068931212 (DE-599)DOAJ61e74f9ef396439ebd381addcbedf971 DE-627 ger DE-627 rakwb eng RB1-214 Celia Zazo Seco verfasserin aut A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia Medicine R Pathology Anna Castells-Nobau verfasserin aut Seol-hee Joo verfasserin aut Margit Schraders verfasserin aut Jia Nee Foo verfasserin aut Monique van der Voet verfasserin aut S. Sendhil Velan verfasserin aut Bonnie Nijhof verfasserin aut Jaap Oostrik verfasserin aut Erik de Vrieze verfasserin aut Radoslaw Katana verfasserin aut Atika Mansoor verfasserin aut Martijn Huynen verfasserin aut Radek Szklarczyk verfasserin aut Martin Oti verfasserin aut Lisbeth Tranebjærg verfasserin aut Erwin van Wijk verfasserin aut Jolanda M. Scheffer-de Gooyert verfasserin aut Saadat Siddique verfasserin aut Jonathan Baets verfasserin aut Peter de Jonghe verfasserin aut Syed Ali Raza Kazmi verfasserin aut Suresh Anand Sadananthan verfasserin aut Bart P. van de Warrenburg verfasserin aut Chiea Chuen Khor verfasserin aut Martin C. Göpfert verfasserin aut Raheel Qamar verfasserin aut Annette Schenck verfasserin aut Hannie Kremer verfasserin aut Saima Siddiqi verfasserin aut In Disease Models & Mechanisms The Company of Biologists, 2011 10(2017), 2, Seite 105-118 (DE-627)578531917 (DE-600)2451104-3 17548411 nnns volume:10 year:2017 number:2 pages:105-118 https://doi.org/10.1242/dmm.026476 kostenfrei https://doaj.org/article/61e74f9ef396439ebd381addcbedf971 kostenfrei http://dmm.biologists.org/content/10/2/105 kostenfrei https://doaj.org/toc/1754-8403 Journal toc kostenfrei https://doaj.org/toc/1754-8411 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_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 10 2017 2 105-118 |
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10.1242/dmm.026476 doi (DE-627)DOAJ068931212 (DE-599)DOAJ61e74f9ef396439ebd381addcbedf971 DE-627 ger DE-627 rakwb eng RB1-214 Celia Zazo Seco verfasserin aut A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia Medicine R Pathology Anna Castells-Nobau verfasserin aut Seol-hee Joo verfasserin aut Margit Schraders verfasserin aut Jia Nee Foo verfasserin aut Monique van der Voet verfasserin aut S. Sendhil Velan verfasserin aut Bonnie Nijhof verfasserin aut Jaap Oostrik verfasserin aut Erik de Vrieze verfasserin aut Radoslaw Katana verfasserin aut Atika Mansoor verfasserin aut Martijn Huynen verfasserin aut Radek Szklarczyk verfasserin aut Martin Oti verfasserin aut Lisbeth Tranebjærg verfasserin aut Erwin van Wijk verfasserin aut Jolanda M. Scheffer-de Gooyert verfasserin aut Saadat Siddique verfasserin aut Jonathan Baets verfasserin aut Peter de Jonghe verfasserin aut Syed Ali Raza Kazmi verfasserin aut Suresh Anand Sadananthan verfasserin aut Bart P. van de Warrenburg verfasserin aut Chiea Chuen Khor verfasserin aut Martin C. Göpfert verfasserin aut Raheel Qamar verfasserin aut Annette Schenck verfasserin aut Hannie Kremer verfasserin aut Saima Siddiqi verfasserin aut In Disease Models & Mechanisms The Company of Biologists, 2011 10(2017), 2, Seite 105-118 (DE-627)578531917 (DE-600)2451104-3 17548411 nnns volume:10 year:2017 number:2 pages:105-118 https://doi.org/10.1242/dmm.026476 kostenfrei https://doaj.org/article/61e74f9ef396439ebd381addcbedf971 kostenfrei http://dmm.biologists.org/content/10/2/105 kostenfrei https://doaj.org/toc/1754-8403 Journal toc kostenfrei https://doaj.org/toc/1754-8411 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_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 10 2017 2 105-118 |
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In Disease Models & Mechanisms 10(2017), 2, Seite 105-118 volume:10 year:2017 number:2 pages:105-118 |
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Celia Zazo Seco @@aut@@ Anna Castells-Nobau @@aut@@ Seol-hee Joo @@aut@@ Margit Schraders @@aut@@ Jia Nee Foo @@aut@@ Monique van der Voet @@aut@@ S. Sendhil Velan @@aut@@ Bonnie Nijhof @@aut@@ Jaap Oostrik @@aut@@ Erik de Vrieze @@aut@@ Radoslaw Katana @@aut@@ Atika Mansoor @@aut@@ Martijn Huynen @@aut@@ Radek Szklarczyk @@aut@@ Martin Oti @@aut@@ Lisbeth Tranebjærg @@aut@@ Erwin van Wijk @@aut@@ Jolanda M. Scheffer-de Gooyert @@aut@@ Saadat Siddique @@aut@@ Jonathan Baets @@aut@@ Peter de Jonghe @@aut@@ Syed Ali Raza Kazmi @@aut@@ Suresh Anand Sadananthan @@aut@@ Bart P. van de Warrenburg @@aut@@ Chiea Chuen Khor @@aut@@ Martin C. Göpfert @@aut@@ Raheel Qamar @@aut@@ Annette Schenck @@aut@@ Hannie Kremer @@aut@@ Saima Siddiqi @@aut@@ |
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Celia Zazo Seco misc RB1-214 misc FITM2 misc Lipid droplets misc Drosophila misc Hearing impairment misc Motor development misc Dystonia misc Medicine misc R misc Pathology A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy |
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RB1-214 A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy FITM2 Lipid droplets Drosophila Hearing impairment Motor development Dystonia |
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy |
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy |
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A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. |
abstractGer |
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. |
abstract_unstemmed |
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G<T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2. |
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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy |
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