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Free Content Localization of a Novel Autosomal Recessive Non-syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3-q13.4

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Summary

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: Candidate gene; DFNB63; Hearing impairment; Locus

Document Type: Research Article

Affiliations: 1: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisie 2: Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Tunisie 3: Service d'Ophtalmologie, C.H.U. H. Bourguiba de Sfax, Tunisie

Publication date: March 1, 2007

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