title: A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.
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.
authors.affiliation: Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850-3227, USA.
authors.forename: M M
authors.initials: MM
authors.lastname: Lesperance
authors.forename: J W
authors.initials: JW
authors.lastname: Hall
authors.forename: F H
authors.initials: FH
authors.lastname: Bess
authors.forename: K
authors.initials: K
authors.lastname: Fukushima
authors.forename: P K
authors.initials: PK
authors.lastname: Jain
authors.forename: B
authors.initials: B
authors.lastname: Ploplis
authors.forename: T B
authors.initials: TB
authors.lastname: San Agustin
authors.forename: H
authors.initials: H
authors.lastname: Skarka
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Wills
mesh_terms: D000293:Adolescent; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D008126:Lod Score; D008297:Male; D051379:Mice; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers