Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3

• Published in: Human genetics Vol. 120; no. 6; pp. 789 - 793
• Main Authors: KHAN, Shahid Y, RIAZUDDIN, Saima, RIAZUDDIN, Sheikh, TARIQ, Muhammad, ANWAR, Saima, SHABBIR, Muhammad I, AMER RIAZUDDIN, S, KHAN, Shaheen N, HUSNAIN, Tayyab, AHMED, Zubair M, FRIEDMAN, Thomas B
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.02.2007; Berlin Springer Nature B.V; New York, NY
• Subjects: Bioinformatics; Biological and medical sciences; Chromosome Mapping; Chromosomes; Chromosomes, Human, Pair 11 - genetics; Classical genetics, quantitative genetics, hybrids; Congenital diseases; Consanguinity; Deafness; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Female; Fundamental and applied biological sciences. Psychology; Genes; Genes, Recessive; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genomics; Haplotypes; Hearing loss; Hearing Loss, Bilateral - congenital; Hearing Loss, Bilateral - genetics; Hearing Loss, Sensorineural - congenital; Hearing Loss, Sensorineural - genetics; Hearing protection; Homozygote; Human; Humans; Lod Score; Male; Medical sciences; Molecular biology; Mutation; Non tumoral diseases; Otorhinolaryngology. Stomatology; Pakistan; Pedigree; Pakistan; United States > US; Lahore Pakistan; Auditory disorder; ENT disease; Chromosome; Genetics; Autosome; Locus; Hearing loss
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-006-0275-1

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.