title: A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.
abstract: Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. Autosomal recessive (AR) forms of prelingual HI account for approximately 75% of cases with a genetic etiology. A novel AR non-syndromic HI locus (DFNB47) was mapped to chromosome 2p25.1-p24.3, in two distantly related Pakistani kindreds. Genome scan and fine mapping were carried out using microsatellite markers. Multipoint linkage analysis resulted in a maximum LOD score of 4.7 at markers D2S1400 and D2S262. The three-unit support interval was bounded by D2S330 and D2S131. The region of homozygosity was found within the three-unit support interval and flanked by markers D2S2952 and D2S131, which corresponds to 13.2 cM according to the Rutgers combined linkage-physical map. This region contains 5.3 Mb according to the sequence-based physical map. Three candidate genes, KCNF1, ID2 and ATP6V1C2 were sequenced, and were found to be negative for functional sequence variants.
authors.affiliation: Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad Jawad
authors.initials: MJ
authors.lastname: Hassan
authors.forename: Regie Lyn P
authors.initials: RL
authors.lastname: Santos
authors.forename: Muhammad Arshad
authors.initials: MA
authors.lastname: Rafiq
authors.forename: Maria H
authors.initials: MH
authors.lastname: Chahrour
authors.forename: Thanh L
authors.initials: TL
authors.lastname: Pham
authors.forename: Muhammad
authors.initials: M
authors.lastname: Wajid
authors.forename: Nadine
authors.initials: N
authors.lastname: Hijab
authors.forename: Michael
authors.initials: M
authors.lastname: Wambangco
authors.forename: Kwanghyuk
authors.initials: K
authors.lastname: Lee
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Kai
authors.initials: K
authors.lastname: Yan
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
authors.forename: Suzanne M
authors.initials: SM
authors.lastname: Leal
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree