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Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience

Title
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience
Authors
Seong M.-W.Cho A.Park H.W.Seo S.H.Lim B.C.Seol D.Cho S.I.Park S.S.Chae J.H.
Ewha Authors
조안나
SCOPUS Author ID
조안나scopus
Issue Date
2016
Journal Title
Clinical Genetics
ISSN
0009-9163JCR Link
Citation
vol. 89, no. 4, pp. 484 - 488
Keywords
Gene panelMolecular diagnosisMuscular dystrophyNext-generation sequencing
Publisher
Blackwell Publishing Ltd
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic diagnosis was performed in 20 patients (57.1%). LGMD2B was the most common LGMD type, followed by LGMD1B, LGMD2A, and LGMD2G. Among the three major LGMD types in this group, LGMD1B was correlated with the lowest creatine kinase (CK) levels and the earliest onset, whereas LGMD2B was correlated with the highest CK levels and the latest onset. Thus, next-generation sequencing-based gene panels can be a helpful tool for the diagnosis of MDs, particularly in young children and those displaying atypical symptoms. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
DOI
10.1111/cge.12621
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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