A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3 - PubMed (original) (raw)

Case Reports

. 1995 Oct;4(10):1967-72.

doi: 10.1093/hmg/4.10.1967.

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• PMID: 8595423
• DOI: 10.1093/hmg/4.10.1967

Case Reports

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

M M Lesperance et al. Hum Mol Genet. 1995 Oct.

Abstract

Mapping genes for nonsyndromic hereditary hearing impairment may lead to identification of genes that are essential for the development and preservation of hearing. We studied a family with autosomal dominant, progressive, low frequency sensorineural hearing loss. Linkage analysis employing microsatellite polymorphic markers revealed a fully linked marker (D4S126) at 4p16.3, a gene-rich region containing IT15, the gene for Huntington's disease (HD). For D4S126, the logarithm-of-odds (lod) score was 3.64 at theta = 0, and the overall maximum lod score was 5.05 at theta = 0.05 for D4S412. Analysis of recombinant individuals maps the disease gene to a 1.7 million base pair (Mb) region between D4S412 and D4S432. Genes for two types of mutant mice with abnormal cochleovestibular function, tilted (tlt) and Bronx waltzer (bv), have been mapped to the syntenic region of human 4p16.3 on mouse chromosome 5. Further studies with the goals of cloning a gene for autosomal nonsyndromic hearing impairment and identifying the murine homologue may explain the role of this gene in the development and function of the cochlea.

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