title: Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3.
abstract: A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.
authors.affiliation: National Center of Excellence in Molecular Biology, University of Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan.
authors.forename: Shahid Y
authors.initials: SY
authors.lastname: Khan
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Saima
authors.initials: S
authors.lastname: Anwar
authors.forename: Muhammad I
authors.initials: MI
authors.lastname: Shabbir
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
authors.forename: Zubair M
authors.initials: ZM
authors.lastname: Ahmed
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006312:Hearing Loss, Bilateral / Q000151:congenital / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree