ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4
ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4
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DOI：
10.1126/science.7839145
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发表时间：
1995-02-03
期刊：
影响因子：
56.9
通讯作者：
CREMERS, FPM
中科院分区：
文献类型：
--
作者：
DEKOK, YJM;VANDERMAAREL, SM;CREMERS, FPM
踝骨固定所致耳聋(DFN3)是最常见的X连锁听力障碍。潜在的基因已经定位在Xq21带的一个500千碱基的片段上。在这里，据报道，这种疾病的候选基因，脑4(POU3F4)，它编码一个带有POU结构域的转录因子，映射到相同的间隔。在5名无亲缘关系的DFN3患者中，但在50名正常对照中，发现了导致预测蛋白质截断或非保守氨基酸替换的微小突变。这些发现表明POU3F4突变是DFN3的分子原因。
Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase segment of the Xq21 band. Here, it is reported that a candidate gene for this disorder, Brain 4 (POU3F4), which encodes a transcription factor with a POU domain, maps to the same interval. In five unrelated patients with DFN3 but not in 50 normal controls, small mutations were found that result in truncation of the predicted protein or in nonconservative amino acid substitutions. These findings indicate that POU3F4 mutations are a molecular cause of DFN3.