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Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Cited 25 time in Web of Science Cited 28 time in Scopus
Authors
Park, Gibeom; Gim, Jungsoo; Kim, Ah Reum; Han, Kyu-Hee; Kim, Hyo-Sang; Oh, Seung-Ha; Park, Taesung; Park, Woong-Yang; Choi, Byung Yoon
Issue Date
2013-03-18
Publisher
BioMed Central
Citation
BMC Genomics, vol.14 no.191
Keywords
Hearing lossCopy number variationLinkage analysisSingle nucleotide variationMutation analysis
Abstract
Background : The genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the efficient discovery of mutations causing nonsyndromic hearing loss (NSHL).

Results: From WES data, we identified five distinct CNV loci from a NSHL family, but they were not co-segregated among patients. Linkage analysis based on SNVs identified six candidate loci (logarithm of odds [LOD] >1.5). We selected 15 SNVs that co-segregated with NSHL in the family, which were located in six linkage candidate loci. Finally, the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant.

Conclusions: Here, we present a multiphasic CNV, linkage, and SNV analysis of WES data for the identification of a candidate mutation causing NSHL. Our stepwise, multiphasic approach enabled us to expedite the discovery of disease-causing variants from a large number of patient variants.
ISSN
1471-2164
Language
English
URI
http://www.biomedcentral.com/1471-2164/14/191

http://hdl.handle.net/10371/82526
DOI
https://doi.org/10.1186/1471-2164-14-191
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Journal Papers (저널논문_의학과)
College of Natural Sciences (자연과학대학)Program in Brain Science (협동과정-뇌과학전공)Journal Papers (저널논문_협동과정-뇌과학전공)
College of Natural Sciences (자연과학대학)Program in Bioinformatics (협동과정-생물정보학전공)Journal Papers (저널논문_협동과정-생물정보학전공)
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