title: Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.
abstract: Hereditary hearing impairment (HI) is the most genetically heterogeneous trait known in humans. So far, 54 autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 21 ARNSHI genes have been identified. Here is reported the mapping of a novel ARNSHI locus, DFNB55, to chromosome 4q12-q13.2 in a consanguineous Pakistani family. A maximum multipoint LOD score of 3.5 was obtained at marker D4S2638. The region of homozygosity and the 3-unit support interval are flanked by markers D4S2978 and D4S2367. The region spans 8.2 cm on the Rutgers combined linkage-physical map and contains 11.5 Mb. DFNB55 represents the third ARNSHI locus mapped to chromosome 4.
authors.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: S
authors.initials: S
authors.lastname: Irshad
authors.forename: R L P
authors.initials: RL
authors.lastname: Santos
authors.forename: D
authors.initials: D
authors.lastname: Muhammad
authors.forename: K
authors.initials: K
authors.lastname: Lee
authors.forename: N
authors.initials: N
authors.lastname: McArthur
authors.forename: S
authors.initials: S
authors.lastname: Haque
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: S M
authors.initials: SM
authors.lastname: Leal
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D002894:Chromosomes, Human, Pair 4; D003241:Consanguinity; D005808:Genes, Recessive; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D010375:Pedigree