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Article

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2017

Chen Dong-Ye, Liu Xing-Feng, Lin Xiao-Jiang, Zhang Dan, Chai Yong-Chuan, Yu De-Hong, Sun Chang-Ling, Wang Xue-Ling, Zhu Wei-Dong, Chen Ying, Sun Lian-Hua, Wang Xiao-Wen, Shi Fu-Xin, Huang Zhi-Wu, Yang Tao, Wu Hao

Abstract excerpt

PURPOSE: To explore the genetic etiology of deafness in a dominant family with late-onset, progressive, nonsyndromic hearing loss. METHODS: Genome-wide linkage analysis was performed for 21 family members. Candidate pathogenic variants were identified by whole-exome sequencing of selected family members and confirmed by Sanger sequencing of all family members. Cochlear expression of Dmxl2 was investigated by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27657680
DOI: 10.1038/gim.2016.142

Genes

DMXL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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