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Article

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.

Journal of medical genetics - 1 Jun 2017

Xing Guangqian, Yao Jun, Liu Chunyu, Wei Qinjun, Qian Xuli, Wu Lingxin, Lu Yajie, Cao Xin

Abstract excerpt

BACKGROUND: A substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent. OBJECTIVE: To identify the causative gene mutation in a five-generation Chinese family with an X-linked recessive syndromic hearing loss (SHL). METHODS: Targeted X-chromosome exome sequencing was conducted, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28096187
DOI: 10.1136/jmedgenet-2016-104320
PMCID: PMC5502311

Genes

GPRASP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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