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Article

Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2015

Xing Guangqian, Yao Jun, Wu Bin, Liu Tingting, Wei Qinjun, Liu Cheng, Lu Yajie, Chen Zhibin, Zheng Heng, Yang Xiaonan, Cao Xin

Abstract excerpt

PURPOSE: Various forms of hearing loss have genetic causes, but many of the responsible genes have not yet been identified. Here, we describe a large seven-generation Chinese family with autosomal dominant nonsyndromic hearing loss that has been excluded as being caused by known deafness gene mutations associated with autosomal dominant nonsyndromic hearing loss with the aim of identifying a novel causative gene...

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Source

Identifiers

PMID: 25077649
DOI: 10.1038/gim.2014.90

Genes

OSBPL2

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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