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© 1995 Oxford University Press

RESEARCH-ARTICLE

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

Marci M. Lesperance1, James W. Hail, III2,3, Fred H. Bess2,4, Kunihiro Fukushima5, Pawan K. Jain1, Barbara Plopils1, Theresa B.San Agustin1,6, Hana Skarka1, Richard J.H. Smith5, Marketa Wills1 and Edward R. Wilcox1,*

1Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health Rockville, MD 20850-3227 2Division of Hearing and Speech Sciences, School of Medicine, Vanderbilt University Nashville, TN 37212-3102 3Department Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa Nashville, TN 37212-3102 4 Bill Wilkerson Center, Nashville, TN 37212 5Molecular of Otolaryngology, School of Medicine Department of Otolaryngology University of Iowa, Iowa City, IA 52242 6National Institute on Disability and Rehabilitation Research Washington, DC 20202-2572, USA

*To whom correspondence should be addressed

Received May 17, 1995; Revised June 30, 1995; Accepted June 30, 1995

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 microsateliite 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 iod 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 cochleovestibuiar 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 homoiogue may explain the role of this gene in the development and function of the cochlea.


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