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Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all‐frequencies
Author(s) -
Bai Xiaohui,
Lv Huaiqing,
Zhang Fengguo,
Liu Jinzhi,
Fan Zhaomin,
Xu Lei,
Han Yuhang,
Chai Renjie,
Li Jianfeng,
Wang Haibo
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36760
Subject(s) - hearing loss , missense mutation , genetics , sensorineural hearing loss , sanger sequencing , exome sequencing , mutation , biology , single nucleotide polymorphism , candidate gene , gene , audiology , medicine , genotype
Hearing loss is the most common sensory disorder affecting 278 million people in the world, and more than 60% of hearing loss patients can be attributed to genetic causes. Although many loci have been linked to hereditary hearing impairment, most of the causative genes have not been identified as yet. The goal of this study was to investigate the cause of dominantly inherited sensorineural all‐frequency hearing loss in a six‐generation Chinese family. We performed exome sequencing to screen responsible candidate genes in three family members with all‐frequency hearing loss and one member with normal hearing. Sanger sequencing was employed to examine the variant mutations in the members of this family and 200 healthy persons. PCR‐RFLP was performed to further confirm the nucleotide mutation. A novel missense mutation c.2389G > A (GAC → AAC) in WFS1 gene was identified, which was co‐segregated with the hearing loss phenotype. No mutation was found in 200 controls and the family members with normal hearing in this site. The present study identifies, for the first time, a novel mutation in WFS1 gene that causes non‐syndromic hearing loss in all, rather than in low or high, frequencies. © 2014 Wiley Periodicals, Inc.