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

Cited 28 time in Web of Science Cited 30 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

https://hdl.handle.net/10371/82526
DOI
https://doi.org/10.1186/1471-2164-14-191
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