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Clin Genet. 2017 Mar;91(3):403-410. doi: 10.1111/cge.12826. Epub 2016 Jul 29.

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Author information

1
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
2
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
3
Department of Chemistry, Yonsei University, Seoul, Korea.
4
Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University, Seoul, Korea.

Abstract

Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype-phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variants were classified as pathogenic/likely pathogenic variants; 38 were novel variations. A total of 39 patients had the pathogenic/likely pathogenic variants. Among them, 75 (36%) patients were genetically confirmed, and 18 (9%) patients had one heterozygous variant of recessive myopathy. However, two genetically confirmed patients had an additional heterozygous variant of another recessive myopathy. Four patients with one heterozygous variant of a recessive myopathy showed different phenotypes, compared with the known phenotype of the identified gene. The major causative genes of Korean patients with IMDs were DMD (19 patients), COL6A1 (9), DYSF (9), GNE (7), LMNA (7), CAPN3 (6), and RYR1 (5). This study showed the mutational and clinical spectra in Korean patients with IMD and confirmed the usefulness of strategies utilizing targeted sequencing.

KEYWORDS:

diagnosis; genotype-phenotype correlation; inherited muscular disorder; pathogenic variant; targeted sequencing

PMID:
27363342
DOI:
10.1111/cge.12826
[Indexed for MEDLINE]

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