Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the bind...
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E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018 |
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Enthalten in: Skeletal muscle - London : BioMed Central, 2011, 8(2018), 1 vom: 30. Juli |
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| Übergeordnetes Werk: |
volume:8 ; year:2018 ; number:1 ; day:30 ; month:07 |
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| DOI / URN: |
10.1186/s13395-018-0170-1 |
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SPR031577253 |
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| 245 | 1 | 0 | |a Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness |
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| 520 | |a Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. | ||
| 650 | 4 | |a Whole-exome sequencing |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Dystroglycanopathies |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Limb-girdle muscle weakness |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Bertoli, Marta |e verfasserin |4 aut | |
| 700 | 1 | |a Phillips, Lauren |e verfasserin |4 aut | |
| 700 | 1 | |a Töpf, Ana |e verfasserin |4 aut | |
| 700 | 1 | |a Van den Bergh, Peter |e verfasserin |4 aut | |
| 700 | 1 | |a Vissing, John |e verfasserin |4 aut | |
| 700 | 1 | |a Witting, Nanna |e verfasserin |4 aut | |
| 700 | 1 | |a Nafissi, Shahriar |e verfasserin |4 aut | |
| 700 | 1 | |a Jamal-Omidi, Shirin |e verfasserin |4 aut | |
| 700 | 1 | |a Łusakowska, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Kostera-Pruszczyk, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Potulska-Chromik, Anna |e verfasserin |4 aut | |
| 700 | 1 | |a Deconinck, Nicolas |e verfasserin |4 aut | |
| 700 | 1 | |a Wallgren-Pettersson, Carina |e verfasserin |4 aut | |
| 700 | 1 | |a Strang-Karlsson, Sonja |e verfasserin |4 aut | |
| 700 | 1 | |a Colomer, Jaume |e verfasserin |4 aut | |
| 700 | 1 | |a Claeys, Kristl G. |e verfasserin |4 aut | |
| 700 | 1 | |a De Ridder, Willem |e verfasserin |4 aut | |
| 700 | 1 | |a Baets, Jonathan |e verfasserin |4 aut | |
| 700 | 1 | |a von der Hagen, Maja |e verfasserin |4 aut | |
| 700 | 1 | |a Fernández-Torrón, Roberto |e verfasserin |4 aut | |
| 700 | 1 | |a Zulaica Ijurco, Miren |e verfasserin |4 aut | |
| 700 | 1 | |a Espinal Valencia, Juan Bautista |e verfasserin |4 aut | |
| 700 | 1 | |a Hahn, Andreas |e verfasserin |4 aut | |
| 700 | 1 | |a Durmus, Hacer |e verfasserin |4 aut | |
| 700 | 1 | |a Willis, Tracey |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Liwen |e verfasserin |4 aut | |
| 700 | 1 | |a Valkanas, Elise |e verfasserin |4 aut | |
| 700 | 1 | |a Mullen, Thomas E. |e verfasserin |4 aut | |
| 700 | 1 | |a Lek, Monkol |e verfasserin |4 aut | |
| 700 | 1 | |a MacArthur, Daniel G. |e verfasserin |4 aut | |
| 700 | 1 | |a Straub, Volker |e verfasserin |4 aut | |
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10.1186/s13395-018-0170-1 doi (DE-627)SPR031577253 (SPR)s13395-018-0170-1-e DE-627 ger DE-627 rakwb eng 540 ASE Johnson, Katherine verfasserin aut Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. Whole-exome sequencing (dpeaa)DE-He213 Dystroglycanopathies (dpeaa)DE-He213 Limb-girdle muscle weakness (dpeaa)DE-He213 Bertoli, Marta verfasserin aut Phillips, Lauren verfasserin aut Töpf, Ana verfasserin aut Van den Bergh, Peter verfasserin aut Vissing, John verfasserin aut Witting, Nanna verfasserin aut Nafissi, Shahriar verfasserin aut Jamal-Omidi, Shirin verfasserin aut Łusakowska, Anna verfasserin aut Kostera-Pruszczyk, Anna verfasserin aut Potulska-Chromik, Anna verfasserin aut Deconinck, Nicolas verfasserin aut Wallgren-Pettersson, Carina verfasserin aut Strang-Karlsson, Sonja verfasserin aut Colomer, Jaume verfasserin aut Claeys, Kristl G. verfasserin aut De Ridder, Willem verfasserin aut Baets, Jonathan verfasserin aut von der Hagen, Maja verfasserin aut Fernández-Torrón, Roberto verfasserin aut Zulaica Ijurco, Miren verfasserin aut Espinal Valencia, Juan Bautista verfasserin aut Hahn, Andreas verfasserin aut Durmus, Hacer verfasserin aut Willis, Tracey verfasserin aut Xu, Liwen verfasserin aut Valkanas, Elise verfasserin aut Mullen, Thomas E. verfasserin aut Lek, Monkol verfasserin aut MacArthur, Daniel G. verfasserin aut Straub, Volker verfasserin aut Enthalten in Skeletal muscle London : BioMed Central, 2011 8(2018), 1 vom: 30. Juli (DE-627)647308258 (DE-600)2595637-1 2044-5040 nnns volume:8 year:2018 number:1 day:30 month:07 https://dx.doi.org/10.1186/s13395-018-0170-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 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_70 GBV_ILN_73 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_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 8 2018 1 30 07 |
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10.1186/s13395-018-0170-1 doi (DE-627)SPR031577253 (SPR)s13395-018-0170-1-e DE-627 ger DE-627 rakwb eng 540 ASE Johnson, Katherine verfasserin aut Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. Whole-exome sequencing (dpeaa)DE-He213 Dystroglycanopathies (dpeaa)DE-He213 Limb-girdle muscle weakness (dpeaa)DE-He213 Bertoli, Marta verfasserin aut Phillips, Lauren verfasserin aut Töpf, Ana verfasserin aut Van den Bergh, Peter verfasserin aut Vissing, John verfasserin aut Witting, Nanna verfasserin aut Nafissi, Shahriar verfasserin aut Jamal-Omidi, Shirin verfasserin aut Łusakowska, Anna verfasserin aut Kostera-Pruszczyk, Anna verfasserin aut Potulska-Chromik, Anna verfasserin aut Deconinck, Nicolas verfasserin aut Wallgren-Pettersson, Carina verfasserin aut Strang-Karlsson, Sonja verfasserin aut Colomer, Jaume verfasserin aut Claeys, Kristl G. verfasserin aut De Ridder, Willem verfasserin aut Baets, Jonathan verfasserin aut von der Hagen, Maja verfasserin aut Fernández-Torrón, Roberto verfasserin aut Zulaica Ijurco, Miren verfasserin aut Espinal Valencia, Juan Bautista verfasserin aut Hahn, Andreas verfasserin aut Durmus, Hacer verfasserin aut Willis, Tracey verfasserin aut Xu, Liwen verfasserin aut Valkanas, Elise verfasserin aut Mullen, Thomas E. verfasserin aut Lek, Monkol verfasserin aut MacArthur, Daniel G. verfasserin aut Straub, Volker verfasserin aut Enthalten in Skeletal muscle London : BioMed Central, 2011 8(2018), 1 vom: 30. Juli (DE-627)647308258 (DE-600)2595637-1 2044-5040 nnns volume:8 year:2018 number:1 day:30 month:07 https://dx.doi.org/10.1186/s13395-018-0170-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 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_70 GBV_ILN_73 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_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 8 2018 1 30 07 |
| allfields_unstemmed |
10.1186/s13395-018-0170-1 doi (DE-627)SPR031577253 (SPR)s13395-018-0170-1-e DE-627 ger DE-627 rakwb eng 540 ASE Johnson, Katherine verfasserin aut Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. Whole-exome sequencing (dpeaa)DE-He213 Dystroglycanopathies (dpeaa)DE-He213 Limb-girdle muscle weakness (dpeaa)DE-He213 Bertoli, Marta verfasserin aut Phillips, Lauren verfasserin aut Töpf, Ana verfasserin aut Van den Bergh, Peter verfasserin aut Vissing, John verfasserin aut Witting, Nanna verfasserin aut Nafissi, Shahriar verfasserin aut Jamal-Omidi, Shirin verfasserin aut Łusakowska, Anna verfasserin aut Kostera-Pruszczyk, Anna verfasserin aut Potulska-Chromik, Anna verfasserin aut Deconinck, Nicolas verfasserin aut Wallgren-Pettersson, Carina verfasserin aut Strang-Karlsson, Sonja verfasserin aut Colomer, Jaume verfasserin aut Claeys, Kristl G. verfasserin aut De Ridder, Willem verfasserin aut Baets, Jonathan verfasserin aut von der Hagen, Maja verfasserin aut Fernández-Torrón, Roberto verfasserin aut Zulaica Ijurco, Miren verfasserin aut Espinal Valencia, Juan Bautista verfasserin aut Hahn, Andreas verfasserin aut Durmus, Hacer verfasserin aut Willis, Tracey verfasserin aut Xu, Liwen verfasserin aut Valkanas, Elise verfasserin aut Mullen, Thomas E. verfasserin aut Lek, Monkol verfasserin aut MacArthur, Daniel G. verfasserin aut Straub, Volker verfasserin aut Enthalten in Skeletal muscle London : BioMed Central, 2011 8(2018), 1 vom: 30. Juli (DE-627)647308258 (DE-600)2595637-1 2044-5040 nnns volume:8 year:2018 number:1 day:30 month:07 https://dx.doi.org/10.1186/s13395-018-0170-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 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_70 GBV_ILN_73 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_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 8 2018 1 30 07 |
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10.1186/s13395-018-0170-1 doi (DE-627)SPR031577253 (SPR)s13395-018-0170-1-e DE-627 ger DE-627 rakwb eng 540 ASE Johnson, Katherine verfasserin aut Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. Whole-exome sequencing (dpeaa)DE-He213 Dystroglycanopathies (dpeaa)DE-He213 Limb-girdle muscle weakness (dpeaa)DE-He213 Bertoli, Marta verfasserin aut Phillips, Lauren verfasserin aut Töpf, Ana verfasserin aut Van den Bergh, Peter verfasserin aut Vissing, John verfasserin aut Witting, Nanna verfasserin aut Nafissi, Shahriar verfasserin aut Jamal-Omidi, Shirin verfasserin aut Łusakowska, Anna verfasserin aut Kostera-Pruszczyk, Anna verfasserin aut Potulska-Chromik, Anna verfasserin aut Deconinck, Nicolas verfasserin aut Wallgren-Pettersson, Carina verfasserin aut Strang-Karlsson, Sonja verfasserin aut Colomer, Jaume verfasserin aut Claeys, Kristl G. verfasserin aut De Ridder, Willem verfasserin aut Baets, Jonathan verfasserin aut von der Hagen, Maja verfasserin aut Fernández-Torrón, Roberto verfasserin aut Zulaica Ijurco, Miren verfasserin aut Espinal Valencia, Juan Bautista verfasserin aut Hahn, Andreas verfasserin aut Durmus, Hacer verfasserin aut Willis, Tracey verfasserin aut Xu, Liwen verfasserin aut Valkanas, Elise verfasserin aut Mullen, Thomas E. verfasserin aut Lek, Monkol verfasserin aut MacArthur, Daniel G. verfasserin aut Straub, Volker verfasserin aut Enthalten in Skeletal muscle London : BioMed Central, 2011 8(2018), 1 vom: 30. Juli (DE-627)647308258 (DE-600)2595637-1 2044-5040 nnns volume:8 year:2018 number:1 day:30 month:07 https://dx.doi.org/10.1186/s13395-018-0170-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 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_70 GBV_ILN_73 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_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 8 2018 1 30 07 |
| allfieldsSound |
10.1186/s13395-018-0170-1 doi (DE-627)SPR031577253 (SPR)s13395-018-0170-1-e DE-627 ger DE-627 rakwb eng 540 ASE Johnson, Katherine verfasserin aut Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness 2018 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. Whole-exome sequencing (dpeaa)DE-He213 Dystroglycanopathies (dpeaa)DE-He213 Limb-girdle muscle weakness (dpeaa)DE-He213 Bertoli, Marta verfasserin aut Phillips, Lauren verfasserin aut Töpf, Ana verfasserin aut Van den Bergh, Peter verfasserin aut Vissing, John verfasserin aut Witting, Nanna verfasserin aut Nafissi, Shahriar verfasserin aut Jamal-Omidi, Shirin verfasserin aut Łusakowska, Anna verfasserin aut Kostera-Pruszczyk, Anna verfasserin aut Potulska-Chromik, Anna verfasserin aut Deconinck, Nicolas verfasserin aut Wallgren-Pettersson, Carina verfasserin aut Strang-Karlsson, Sonja verfasserin aut Colomer, Jaume verfasserin aut Claeys, Kristl G. verfasserin aut De Ridder, Willem verfasserin aut Baets, Jonathan verfasserin aut von der Hagen, Maja verfasserin aut Fernández-Torrón, Roberto verfasserin aut Zulaica Ijurco, Miren verfasserin aut Espinal Valencia, Juan Bautista verfasserin aut Hahn, Andreas verfasserin aut Durmus, Hacer verfasserin aut Willis, Tracey verfasserin aut Xu, Liwen verfasserin aut Valkanas, Elise verfasserin aut Mullen, Thomas E. verfasserin aut Lek, Monkol verfasserin aut MacArthur, Daniel G. verfasserin aut Straub, Volker verfasserin aut Enthalten in Skeletal muscle London : BioMed Central, 2011 8(2018), 1 vom: 30. Juli (DE-627)647308258 (DE-600)2595637-1 2044-5040 nnns volume:8 year:2018 number:1 day:30 month:07 https://dx.doi.org/10.1186/s13395-018-0170-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 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_70 GBV_ILN_73 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_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 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 8 2018 1 30 07 |
| language |
English |
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Enthalten in Skeletal muscle 8(2018), 1 vom: 30. Juli volume:8 year:2018 number:1 day:30 month:07 |
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Enthalten in Skeletal muscle 8(2018), 1 vom: 30. Juli volume:8 year:2018 number:1 day:30 month:07 |
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findex.gbv.de |
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Whole-exome sequencing Dystroglycanopathies Limb-girdle muscle weakness |
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Skeletal muscle |
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Johnson, Katherine @@aut@@ Bertoli, Marta @@aut@@ Phillips, Lauren @@aut@@ Töpf, Ana @@aut@@ Van den Bergh, Peter @@aut@@ Vissing, John @@aut@@ Witting, Nanna @@aut@@ Nafissi, Shahriar @@aut@@ Jamal-Omidi, Shirin @@aut@@ Łusakowska, Anna @@aut@@ Kostera-Pruszczyk, Anna @@aut@@ Potulska-Chromik, Anna @@aut@@ Deconinck, Nicolas @@aut@@ Wallgren-Pettersson, Carina @@aut@@ Strang-Karlsson, Sonja @@aut@@ Colomer, Jaume @@aut@@ Claeys, Kristl G. @@aut@@ De Ridder, Willem @@aut@@ Baets, Jonathan @@aut@@ von der Hagen, Maja @@aut@@ Fernández-Torrón, Roberto @@aut@@ Zulaica Ijurco, Miren @@aut@@ Espinal Valencia, Juan Bautista @@aut@@ Hahn, Andreas @@aut@@ Durmus, Hacer @@aut@@ Willis, Tracey @@aut@@ Xu, Liwen @@aut@@ Valkanas, Elise @@aut@@ Mullen, Thomas E. @@aut@@ Lek, Monkol @@aut@@ MacArthur, Daniel G. @@aut@@ Straub, Volker @@aut@@ |
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2018-07-30T00:00:00Z |
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Johnson, Katherine Bertoli, Marta Phillips, Lauren Töpf, Ana Van den Bergh, Peter Vissing, John Witting, Nanna Nafissi, Shahriar Jamal-Omidi, Shirin Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Deconinck, Nicolas Wallgren-Pettersson, Carina Strang-Karlsson, Sonja Colomer, Jaume Claeys, Kristl G. De Ridder, Willem Baets, Jonathan von der Hagen, Maja Fernández-Torrón, Roberto Zulaica Ijurco, Miren Espinal Valencia, Juan Bautista Hahn, Andreas Durmus, Hacer Willis, Tracey Xu, Liwen Valkanas, Elise Mullen, Thomas E. Lek, Monkol MacArthur, Daniel G. Straub, Volker |
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detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness |
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness |
| abstract |
Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. |
| abstractGer |
Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. |
| abstract_unstemmed |
Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250 ng DNA was completed using an Illumina exome capture and a 38 Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. |
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