A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function

P. C. Tsai, Y. S. Tsai, B. W. Soong, Y. H. Huang, H. T. Wu, Y. H. Chen, K. P. Lin, Y. C. Liao*, Y. C. Lee

*此作品的通信作者

研究成果: Article同行評審

14 引文 斯高帕斯(Scopus)

摘要

Background: Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. Materials and Methods: Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of the causal mutation were investigated in vitro. Results: Exome sequencing of the two affected individuals in this family identified a heterozygous mutation, c.287C>T (p.Pro96Leu) in the DNAJB6 gene, which co-segregated with the myopathy within all 12 family members. Notably, this mutation is novel and localizes within the glycine and phenylalanine-rich (G/F) domain and alters an amino acid residue previously reported with a different mutation. Furthermore, immunofluorescence analyses and filter trap assay demonstrated that the c.287C>T (p.Pro96Leu) mutation possessed a dominant negative effect on the anti-aggregation function of DNAJB6 protein. Conclusion: This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.

原文English
頁(從 - 到)150-157
頁數8
期刊Clinical Genetics
92
發行號2
DOIs
出版狀態Published - 8月 2017

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