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Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Title
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
Authors
Shin, Ha YoungJong, HoonHan, Joo HyungPark, Hyung JunLee, Jung HwanKim, So WonKim, Seung MinPark, Young-BunKim, Dae-SeongBang, DuheeLee, Min GooLee, Ji HyunChoi, Young-Chul
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2015
Journal Title
NEUROMUSCULAR DISORDERS
ISSN
0960-8966JCR Link1873-2364JCR Link
Citation
vol. 25, no. 6, pp. 502 - 510
Keywords
DysferlinopathyDYSFNext-generation sequencingMutationHybridization capture
Publisher
PERGAMON-ELSEVIER SCIENCE LTD
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using conventional sequencing methods. By next-generation sequencing (NGS), DYSF gene analysis has previously been validated through its incorporation in multi-gene panels or exome analyses. However, individual validation of NGS approaches for DYSF gene has not been performed. Here, we established and validated a hybridization capture-based target-enrichment followed by next-generation sequencing to detect mutations in patients with dysferlinopathy. With this approach, mean depth of coverage was approximately 450 fold and almost all (99.3%) of the targeted region had sequence coverage greater than 20 fold. When this approach was tested on samples from patients with known DYSF mutations, all known mutations were correctly retrieved. Using this method on 32 consecutive patient samples with dysferlinopathy, at least two pathogenic variants were detected in 28 (87.5%) samples and at least one pathogenic variant was identified in all samples. Our results suggested that the NGS-based screening method could facilitate efficient and accurate genetic diagnosis of dysferlinopathy. (C) 2015 Elsevier B.V. All rights reserved.
DOI
10.1016/j.nmd.2015.03.006
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의료원 > 의료원 > Journal papers
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