Localization of a Novel Autosomal Recessive Non-syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3-q13.4 |
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| Authors: | A Tlili S Masmoudi H Dhouib S Bouaziz I Ben Rebeh J Chouchen K Turki Z Benzina I Charfedine M Drira H Ayadi |
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| Institution: | Laboratoire de Génétique Moléculaire Humaine, Facultéde Médecine de Sfax, Tunisie;Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Tunisie;Service d'Ophtalmologie, C.H.U. H. Bourguiba de Sfax, Tunisie |
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| 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. |
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| Keywords: | Hearing impairment Locus DFNB63 Candidate gene |
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