title: A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.
abstract: Nonsyndromic hearing loss is one of the most genetically heterogeneous traits known. A total of 30 autosomal dominant nonsyndromic hearing-loss loci have been mapped, and 11 genes have been isolated. In the majority of cases, autosomal dominant nonsyndromic hearing loss is postlingual and progressive, with the exception of hearing impairment in families in which the impairment is linked to DFNA3, DFNA8/12, and DFNA24, the novel locus described in this report. DFNA24 was identified in a large Swiss German kindred with a history of autosomal dominant hearing loss that dates back to the middle of the 19th century. The hearing-impaired individuals in this kindred have prelingual, nonprogressive, bilateral sensorineural hearing loss affecting mainly mid and high frequencies. The DFNA24 locus maps to 4q35-qter. A maximum multipoint LOD score of 11.6 was obtained at 208.1 cM at marker D4S1652. The 3.0-unit support interval for the map position of this locus ranges from 205.8 cM to 211.7 cM (5.9 cM).
authors.affiliation: Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital of Zurich, Zurich, Switzerland.
authors.forename: F M
authors.initials: FM
authors.lastname: Häfner
authors.forename: A A
authors.initials: AA
authors.lastname: Salam
authors.forename: T E
authors.initials: TE
authors.lastname: Linder
authors.forename: D
authors.initials: D
authors.lastname: Balmer
authors.forename: A
authors.initials: A
authors.lastname: Baumer
authors.forename: A A
authors.initials: AA
authors.lastname: Schinzel
authors.forename: T
authors.initials: T
authors.lastname: Spillmann
authors.forename: S M
authors.initials: SM
authors.lastname: Leal
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D018450:Disease Progression; D020224:Expressed Sequence Tags; D005260:Female; D005796:Genes / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics; D005858:Germany; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012984:Software; D013557:Switzerland; D013577:Syndrome
chemical_list: D005819:Genetic Markers