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Article

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

American journal of human genetics - 1 Jan 2010

Liu Xuezhong, Han Dongyi, Li Jianzhong, Han Bing, Ouyang Xiaomei, Cheng Jing, Li Xu, Jin Zhanguo, Wang Youqin, Bitner-Glindzicz Maria, Kong Xiangyin, Xu Heng, Kantardzhieva Albena, Eavey Roland D, Seidman Christine E, Seidman Jonathan G, Du Li L, Chen Zheng-Yi, Dai Pu, Teng Maikun, Yan Denise, Yuan Huijun

Abstract excerpt

We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the thr...

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Identifiers

PMID: 20021999
DOI: 10.1016/j.ajhg.2009.11.015
PMCID: PMC2801751

Genes

PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20021999-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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