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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4
A Tlili1, S Masmoudi, H Dhouib
1Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisie.
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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