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Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

Authors
 Hyung Jun Park  ;  Young-Chul Choi  ;  Seung Min Kim  ;  Se Hoon Kim  ;  Young Bin Hong  ;  Bo Ram Yoon  ;  Ki Wha Chung  ;  Byung-Ok Choi 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.11(2) : 183-187, 2015 
Journal Title
 JOURNAL OF CLINICAL NEUROLOGY 
ISSN
 1738-6586 
Issue Date
2015
Keywords
Bethlem myopathy ; collagen type VI alpha 1 (COL6A1) ; whole exome sequencing
Abstract
BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identified a pathogenic splicing-site mutation (c.1056+1G>A) in COL6A1, which was previously reported to be an underlying cause of Bethlem myopathy. After identification of the genetic cause of the disease, careful neurologic examination revealed subtle contracture of the interphalangeal joint in the affected members, which is a characteristic sign of Bethlem myopathy. Therefore, we revised the original diagnosis from LGMD to Bethlem myopathy. CONCLUSIONS: This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
Files in This Item:
T201500970.pdf Download
DOI
10.3988/jcn.2015.11.2.183
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/139838
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