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Article

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.

International journal of pediatric otorhinolaryngology - 1 Sept 2017

Niu Zhijie, Feng Yong, Hu Zhengmao, Li Jiada, Sun Jie, Chen Hongsheng, He Chufeng, Wang Xueping, Jiang Lu, Liu Yalan, Cai Xinzhang, Wang Lili, Cai Yuxiang, Liu Xuezhong, Mei Lingyun

Abstract excerpt

OBJECTIVE: Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. METHODS: The phenotype of the Chinese family was characterized using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28802351
DOI: 10.1016/j.ijporl.2017.06.008

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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