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Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing

Title
Molecular genetic diagnosis of a bethlem myopathy family with an autosomal-dominant COL6A1 mutation, as evidenced by exome sequencing
Authors
Park H.J.Choi Y.-C.Kim S.M.Kim S.H.Hong Y.B.Yoon B.R.Chung K.W.Choi B.-O.
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2015
Journal Title
Journal of Clinical Neurology (Korea)
ISSN
1738-6586JCR Link
Citation
vol. 11, no. 2, pp. 183 - 187
Keywords
Bethlem myopathyCollagen type VI alpha 1 (COL6A1)Whole exome sequencing
Publisher
Korean Neurological Association
Indexed
SCIE; SCOPUS; KCI WOS scopus
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. © 2015 Korean Neurological Association.
DOI
10.3988/jcn.2015.11.2.183
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의료원 > 의료원 > Journal papers
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