Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4
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DOI：
10.1111/j.1469-1809.2006.00337.x
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发表时间：
2007-03-01
影响因子：
1.9
通讯作者：
Ayadi, H.
中科院分区：
文献类型：
--
作者：
Tlili, A.;Masmoudi, S.;Ayadi, H.
遗传性听力障碍是人类已知的最具遗传异质性的特征。迄今为止，已公布了 50 个常染色体隐性遗传性非综合征性听力障碍 (ARNSHI) 基因座，并鉴定了 23 个 ARNSHI 基因。在这里，我们报告了一个新的 ARNSHI 基因座 DFNB63 到突尼斯大家族中染色体 11q13.3-q13.4 的映射。使用微卫星标记 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 之间的 5.55 Mb 关键区域。 DFNB63 代表映射到 11 号染色体的第六个 ARNSHI 基因座。我们在位置上排除了 MYO7A 作为 DFNB63 致病基因。此外，对SHANK2和KCNE3这两个候选基因的筛选未能发现任何致病突变。
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.