Baldwin C T, Hoth C F, Amos J A, da-Silva E O, Milunsky A
Center for Human Genetics, Boston University School of Medicine, Massachusetts 02118.
Nature. 1992 Feb 13;355(6361):637-8. doi: 10.1038/355637a0.
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. 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.
在此，我们报告了在一个巴西大家庭中导致伴有听力丧失的瓦登伯革氏综合征的基因缺陷的鉴定及特征。这证明了一个导致瓦登伯革氏综合征的突变以及一个导致某种先天性耳聋的突变。该突变存在于HuP2基因中，HuP2基因是成对结构域蛋白家族的成员之一，这类蛋白可结合DNA并调节基因表达。在这个家族中，所有患该疾病的病例都存在此突变，而在50名无亲缘关系的对照受试者的随机样本中则未发现该突变。瓦登伯革氏综合征基因的鉴定及其基因产物的进一步特征分析，可能会增进我们对这种疾病发病机制的理解，并有可能预防此类耳聋。
