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

Authors
 H.J. Park  ;  H. Jang  ;  J.H. Kim  ;  J.H. Lee  ;  H.Y. Shin  ;  S.M. Kim  ;  K.D. Park  ;  S.-V. Yim  ;  Y.-C. Choi 
Citation
 CLINICAL GENETICS, Vol.91(3) : 403-410, 2017 
Journal Title
 CLINICAL GENETICS 
ISSN
 0009-9163 
Issue Date
2017
MeSH
Adult ; Female ; Genetic Association Studies ; Genetic Heterogeneity* ; High-Throughput Nucleotide Sequencing* ; Humans ; Male ; Muscular Diseases/genetics* ; Muscular Diseases/physiopathology ; Mutation ; Pedigree ; Republic of Korea
Keywords
diagnosis ; genotype-phenotype correlation ; inherited muscular disorder ; pathogenic variant ; targeted sequencing
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.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/cge.12826/abstract
DOI
10.1111/cge.12826
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Lee, Jung Hwan(이정환)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154548
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