title: Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
abstract: Many forms of autosomal dominant non-syndromic hearing impairment are known. While the underlying gene defects and causative mutations have been discovered for some forms, the gene responsible for DFNA4 has remained elusive to date. Examination of a German four-generation kindred led to the identification of a 1.44 Mb map segment in contig NT_011109 as being the most likely DFNA4 candidate region in 19q13.33. The recombination breakpoints in this family and the intervals of two previously reported DFNA4 families allowed us to delineate a minimum consensus region between the markers D19S879 and D19S246. In our family, a maximum two-point LOD score of 4.5 was obtained at theta = 0 for the marker D19S867. Within the refined DFNA4 interval the public databases list more than 50 genes, from which several appear to be promising DFNA4 candidates due to similarities with animal models and with other causative genes involved in hearing disability.
authors.affiliation: Institute of Anthropology and Human Genetics, Division of Molecular Genetics, University of Tübingen, 72074 Tübingen, Germany.
authors.forename: C M
authors.initials: CM
authors.lastname: Pusch
authors.forename: B
authors.initials: B
authors.lastname: Meyer
authors.forename: S
authors.initials: S
authors.lastname: Kupka
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: A K
authors.initials: AK
authors.lastname: Lalwani
authors.forename: H-P
authors.initials: HP
authors.lastname: Zenner
authors.forename: N
authors.initials: N
authors.lastname: Blin
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: M
authors.initials: M
authors.lastname: Pfister
mesh_terms: D000328:Adult; D000368:Aged; D001299:Audiometry; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D015870:Gene Expression; D008040:Genetic Linkage; D005858:Germany; D034381:Hearing Loss / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D008126:Lod Score; D008875:Middle Aged; D018995:Myosin Heavy Chains; D024462:Myosin Type II; D010375:Pedigree
chemical_list: D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human