W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
复制标题
连接蛋白 26 基因中的 W44C 突变与显性非综合征性耳聋相关。
DOI：
10.1034/j.1399-0004.2001.590409.x
复制
发表时间：
2001
影响因子：
3.5
通讯作者：
Pandya,A
中科院分区：
文献类型：
--
作者：
Tekin,M;Arnos,KS;Xia,XJ;Oelrich,MK;Liu,XZ;Nance,WE;Pandya,A
虽然超过50%的隐性非综合征性耳聋归因于连接蛋白26（Cx26）基因突变，但只有少数报道的家族表现出显性遗传。W44C突变最初在来自法国同一地理区域的两个家族中报告，其表现出显性非综合征性听力损失。在本报告中，我们描述了第三个早发性重度至极重度非综合征性听力损失家系，该家系与W44C突变分离。我们的观察将W44 C置于Cx26基因的复发突变之列，并强调了在常染色体显性遗传家族中筛查该突变以及其他Cx26突变的重要性。
Although more than 50% of recessive non‐syndromic deafness is attributed to mutations in the connexin 26 (Cx26) gene, only a few reported families have shown dominant transmission of the trait. The W44C mutation was originally reported in two families from the same geographic region of France, which exhibited dominant non‐syndromic hearing loss. In this report, we describe a third family with early‐onset severe‐to‐profound non‐syndromic hearing loss segregating with the W44C mutation. Our observation places W44C among recurrent mutations in the Cx26 gene and emphasizes the importance of screening for this as well as other Cx26 mutations in autosomal dominant families.