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

Hyung Jun Park, Young Chul Choi, Seung Min Kim, Se Hoon Kim, Young Bin Hong, Bo Ram Yoon, Ki Wha Chung, Byung Ok Choi

Research output: Contribution to journalArticle

4 Citations (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.

Original languageEnglish
Pages (from-to)183-187
Number of pages5
JournalJournal of Clinical Neurology (Korea)
Volume11
Issue number2
DOIs
Publication statusPublished - 2015

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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