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Am J Med Genet A. 2014 Dec;164A(12):3052-60. doi: 10.1002/ajmg.a.36760. Epub 2014 Sep 23.

Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.

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Department of Otorhinolaryngology Head and Neck Surgery, Provincial Hospital Affiliated to Shandong University, Jinan, P.R. China; Shandong Provincial Key Laboratory of Otology, Jinan, P.R. China.


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.


WFS1; all-frequency sensorineural hearing loss; autosomal dominant; exome sequence; novel mutation

[Indexed for MEDLINE]

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