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Article

Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

BMC medical genetics - 23 Mar 2017

Tang Fengzhu, Ma Dengke, Wang Yulan, Qiu Yuecai, Liu Fei, Wang Qingqing, Lu Qiutian, Shi Min, Xu Liang, Liu Min, Liang Jianping

Abstract excerpt

BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured,...

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Source

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Identifiers

PMID: 28335750
DOI: 10.1186/s12881-017-0400-0
PMCID: PMC5364697

Genes

OTOF
GJB2
GJB3

Provenance

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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