View : 33 Download: 0

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

Title
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders
Authors
Park, H. J.Jang, H.Kim, J. H.Lee, J. H.Shin, H. Y.Kim, S. M.Park, K. D.Yim, S. -V.Choi, Y. -C.
Ewha Authors
박기덕박형준
SCOPUS Author ID
박기덕scopus; 박형준scopusscopus
Issue Date
2017
Journal Title
CLINICAL GENETICS
ISSN
0009-9163JCR Link1399-0004JCR Link
Citation
vol. 91, no. 3, pp. 403 - 410
Keywords
diagnosisgenotype-phenotype correlationinherited muscular disorderpathogenic varianttargeted sequencing
Publisher
WILEY
Indexed
SCI; SCIE; SCOPUS WOS scopus
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.
DOI
10.1111/cge.12826
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE