AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME
AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME
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DOI：
10.1038/355637a0
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发表时间：
1992-02-13
期刊：
影响因子：
64.8
通讯作者：
MILUNSKY, A
中科院分区：
文献类型：
--
作者：
BALDWIN, CT;HOTH, CF;MILUNSKY, A
在这里，我们报告了在一个巴西大家庭中，一个引起瓦登堡综合征并伴有听力损失的基因缺陷的鉴定和特征。这证明了导致瓦登堡综合征的突变以及导致一种形式的先天性耳聋的突变。该突变是在HuP2基因中发现的，该基因是结合DNA并调节基因表达的配对结构域蛋白家族的成员1。该突变在该家族中100%的病例中发生，在随机抽取的50名无关对照对象中没有突变。瓦登堡综合征基因的鉴定及其基因产物的未来特征可能会增加我们对这种疾病的发病机制的了解，并可能预防这种类型的耳聋。
HERE We report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This demonstrates a mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness. The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression 1. The mutation occurred in 100% of the cases with the disease in this family and was absent in a random sample of 50 unrelated control subjects. Identification of the Waardenburg's syndrome gene and future characterization of its gene product is likely to increase our understanding of the pathogenesis of this disorder and may allow prevention of deafness of this type.