Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh I Ben, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H
Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Tunisie.
Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. doi: 10.1111/j.1469-1809.2006.00337.x. Epub 2006 Dec 12.
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.
遗传性听力障碍是人类已知的遗传异质性最高的性状。到目前为止，已定位了50个已发表的常染色体隐性非综合征性听力障碍（ARNSHI）基因座，并且已鉴定出23个ARNSHI基因。在此，我们报告了在一个庞大的突尼斯近亲家庭中，一个新的ARNSHI基因座DFNB63定位于染色体11q13.3-q13.4。微卫星标记D11S916和D11S4207获得的最大LOD得分为5.33。单倍型分析确定了微卫星标记D11S4136和D11S4081之间5.55 Mb的关键区域。DFNB63是定位于染色体11的第六个ARNSHI基因座。我们通过定位排除了MYO7A作为DFNB63致病基因的可能性。此外，对两个候选基因SHANK2和KCNE3的筛查未发现任何致病突变。
