期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 86, 期 1, 页码 65-71出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2009.11.015
关键词
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资金
- NIDCD NIH HHS [R01 DC006908, R01 DC005575, R01DC005575, R01 DC012115] Funding Source: Medline
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 three previously reported DFN2 families identified four different missense mutations in PRPS1. These Mutations result in a loss of phosphoribosyl pyrophosphate (PRPP) synthetase I activity, as was shown in silico by structural analysis and was shown in vitro by enzymatic activity assays in erythrocytes and fibroblasts from patients. By ill Situ hybridization, we demonstrate expression of Prps1 in murine vestibular and cochlea hair cells, with Continuous expression in hair cells and postnatal expression in the spiral ganglion. Being the second identified gene associated with X-linked nonsyndromic deafness, PRPS1 will be a good candidate gene for genetic testing for X-linked nonsyndromic hearing loss.
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