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Article

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.

BioMed research international - 1 Jan 2022

Ma Jingyu, Wang Rongrong, Zhang Li, Wang Shanshan, Tong Shuqing, Bai Xiaohui, Lu Zhiming

Abstract excerpt

Background: Nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) is an uncommon form of hearing loss (HL) that typically affects frequencies at 2000 Hz and below. Heterozygous variants in the WFS1 gene at the DFNA6/14/38 locus are considered a common cause of LFSNHL. To date, 34 different pathogenic genetic variants have been reported to cause LFSNHL with seven of these variants identified in the...

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Identifiers

PMID: 36225977
DOI: 10.1155/2022/5068869
PMCID: PMC9550458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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