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

Marci M Lesperance; James W Hail; Fred H Bess; Kunihiro Fukushima; Pawan K Jain; Barbara Plopils; Theresa B.San Agustin; Hana Skarka; Richard J H Smith; Marketa Wills; Edward R Wilcox

doi:10.1093/hmg/4.10.1967

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

Journal article

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

Marci M Lesperance, James W Hail, Fred H Bess, Kunihiro Fukushima, Pawan K Jain, Barbara Plopils, Theresa B.San Agustin, Hana Skarka, Richard J H Smith, Marketa Wills, …

Human molecular genetics, Vol.4(10), pp.1967-1972

1995

DOI: 10.1093/hmg/4.10.1967

PMID: 8595423

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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.

Details

Title: Subtitle: A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
Creators: Marci M Lesperance
James W Hail
Fred H Bess
Kunihiro Fukushima
Pawan K Jain
Barbara Plopils
Theresa B.San Agustin
Hana Skarka
Richard J H Smith
Marketa Wills
Edward R Wilcox
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.4(10), pp.1967-1972
DOI: 10.1093/hmg/4.10.1967
PMID: 8595423
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Language: English
Date published: 1995
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006401202771

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