Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders
- 주제(키워드) Diagnosis , Genotype-phenotype correlation , Inherited muscular disorder , Pathogenic variant , Targeted sequencing
- 등재 SCIE, SCOPUS
- 발행기관 Blackwell Publishing Ltd
- 발행년도 2016
- 총서유형 Journal
- URI http://www.dcollection.net/handler/ewha/000000134611
- 본문언어 영어
- Published As http://dx.doi.org/10.1111/cge.12826
- 저작권 이화여자대학교 논문은 저작권에 의해 보호받습니다.
초록/요약
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. © 2016 John Wiley & Sons A/S.
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