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Article

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

Journal of genetics and genomics = Yi chuan xue bao - 1 Feb 2011

Sun Yi, Cheng Jing, Lu Yanping, Li Jianzhong, Lu Yu, Jin Zhanguo, Dai Pu, Wang Rongguang, Yuan Huijun

Abstract excerpt

Non-syndromic low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of hearing loss in which frequencies ≤2000 Hz predominantly are affected. To date, different mutations in two genes, DIAPH1 and WFS1, have been found to be associated with LFSNHL. Here, we report a five-generation Chinese family with postlingual and progressive LFSNHL. We mapped the disease locus to a 2.5 Mb region on chromosome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21356526
DOI: 10.1016/j.jcg.2011.01.001

Genes

WFS1
DIAPH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.PMID 21356526Read ↗

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