A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
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DOI：
10.1086/514892
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发表时间：
1997-10-01
影响因子：
9.8
通讯作者：
Smith, RJH
中科院分区：
文献类型：
--
作者：
Brown, MR;Tomek, MS;Smith, RJH
非综合征性听力损失（NSHL）是老年人最常见的听力障碍类型。环境和遗传因素在病因学中发挥着作用，尽管每种因素的相对贡献尚不清楚。迄今为止，39 个 NSHL 基因已被定位。十二种会导致常染色体显性听力损失，最常见的是语后发病，性质是进行性的。我们已经确定了一个大的多代家族，其中常染色体显性 NSHL 基因正在分离。受影响的人从 2-4 岁开始就会经历进行性听力损失，最终必须使用扩音器。在染色体 6p 上发现了一个新的基因座 DFNA13；该疾病基因映射到 D6S1663 和 D6S1691 两侧的 4 cM 间隔，D6S299 处的最大两点 LOD 得分为 6.409。
Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in nature. We have ascertained a large, multigenerational family in which a gene for autosomal dominant NSHL is segregating. Affected individuals experience progressive hearing loss beginning in the 2d-4th decades, eventually making the use of amplification mandatory. A novel locus, DFNA13, was identified on chromosome 6p; the disease gene maps to a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum two-point LOD score of 6.409 at D6S299.