title: A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
abstract: Non-syndromic sensorineural deafness is an extremely genetically heterogeneous condition. We have used autozygosity mapping in a large consanguineous United Arab Emirate family to identify a novel locus for autosomal recessive non-syndromic sensorineural deafness, DFNB27, on chromosome 2q23-q31, with a maximum two-point lod score of 5.18 at theta = 0 for marker D2S2257. The DFNB27 locus extends over a 17 cM region between D2S2157 and D2S2273, and may overlap the DFNA16 locus for dominantly inherited, fluctuating, progressive non-syndromal hearing loss. However, genotype data suggests that the locus is likely to be refined to between D2S326 and D2S2273 and thus distinct from the DFNA16 locus.
authors.affiliation: Molecular Medicine Unit, University of Leeds, St James's University Hospital, UK.
authors.forename: L J
authors.initials: LJ
authors.lastname: Pulleyn
authors.forename: A P
authors.initials: AP
authors.lastname: Jackson
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: A
authors.initials: A
authors.lastname: Carridice
authors.forename: C
authors.initials: C
authors.lastname: Muxworthy
authors.forename: M
authors.initials: M
authors.lastname: Houseman
authors.forename: L I
authors.initials: LI
authors.lastname: Al-Gazali
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003241:Consanguinity; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree