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Article

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

European journal of medical genetics - 1 Jan 2019

Yu Seyoung, Choi Hye Ji, Lee Joon Suk, Lee Hyun Jae, Rim John Hoon, Choi Jae Young, Gee Heon Yung, Jung Jinsei

Abstract excerpt

OTOG was identified as a nonsyndrmoic hearing loss gene in 2012 in two families with nonprogressive mild-to-moderate hearing loss. However, no further literature have this gene for nonsyndromic hearing loss. Furthermore, it is still unclear whether vestibular impairment is involved or not in patients with mutations in OTOG. This study presents a validated second report for homozygous causative mutations in OTOG...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29800624
DOI: 10.1016/j.ejmg.2018.05.018

Genes

OTOG

Variants

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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