title: Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
abstract: Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Tlili
authors.forename: S
authors.initials: S
authors.lastname: Masmoudi
authors.forename: H
authors.initials: H
authors.lastname: Dhouib
authors.forename: S
authors.initials: S
authors.lastname: Bouaziz
authors.forename: I Ben
authors.initials: IB
authors.lastname: Rebeh
authors.forename: J
authors.initials: J
authors.lastname: Chouchen
authors.forename: K
authors.initials: K
authors.lastname: Turki
authors.forename: Z
authors.initials: Z
authors.lastname: Benzina
authors.forename: I
authors.initials: I
authors.lastname: Charfedine
authors.forename: M
authors.initials: M
authors.lastname: Drira
authors.forename: H
authors.initials: H
authors.lastname: Ayadi
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D014416:Tunisia