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Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing

Title
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing
Author
오기욱
Keywords
Amyotrophic lateral sclerosis; ALS; Next-generation sequencing; NGS; Multigene panel; Mutation
Issue Date
2016-01
Publisher
ELSEVIER SCIENCE INC
Citation
NEUROBIOLOGY OF AGING, v. 37, Article number 209.e9, Page. 9-16
Abstract
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease involving motor neurons. Because a growing number of genes have been identified as the genetic etiology of ALS, simultaneous screening of mutations in multiple genes is likely to be more efficient than gene-by-gene testing. In this study, we performed a multigene panel testing by using targeted capture of 18 ALS-related genes followed by next-generation sequencing. Using this technique, we tried to identify mutations in 4 index patients with familial ALS and 148 sporadic ALS in Korean population and identified 4 known mutations in SOD1, ALS2, MAPT, and SQSTM1 genes, respectively, and 28 variants of uncertain significance in 9 genes. Among the 28 variants of uncertain significance, 6 missense variants were found in highly conserved residues and were consistently predicted to be deleterious by in silico analyses. These results suggest that multigene panel testing is an effective approach for mutation screening in ALS-related genes. Moreover, the relatively low frequency of mutations in known ALS genes implies marked genetic heterogeneity at least in Korean patients with ALS. (C) 2016 Elsevier Inc. All rights reserved.
URI
http://www.sciencedirect.com/science/article/pii/S0197458015004698?via%3Dihubhttp://hdl.handle.net/20.500.11754/31716
ISSN
0197-4580; 1558-1497
DOI
10.1016/j.neurobiolaging.2015.09.012
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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