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Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience
Author(s) -
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.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12621
Subject(s) - dysferlin , muscular dystrophy , medicine , creatine kinase , gene , limb girdle muscular dystrophy , genetic diagnosis , genetics , bioinformatics , mutation , biology
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.