PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
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DOI：
10.1093/hmg/ddg358
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发表时间：
2003-12-15
影响因子：
3.5
通讯作者：
Wilcox, ER
中科院分区：
文献类型：
--
作者：
Ahmed, ZM;Riazuddin, S;Wilcox, ER
编码原钙粘蛋白15的PCDH 15的隐性剪接位点和无义突变已知会导致Usher综合征1F型（USH 1F）的耳聋和视网膜色素变性。在这里，我们报告了非综合征隐性听力损失（DFNB 23）是由PCDH 15的错义突变引起的。这表明基因型-表型相关性，其中亚型等位基因导致非综合征性听力损失，而该基因的更严重突变导致USH 1F。我们本地化原钙粘蛋白15内耳毛细胞静纤毛，视网膜光感受器的免疫细胞化学。我们的研究结果进一步加强了原钙粘蛋白15在静纤毛束的形态发生和凝聚力以及视网膜感光细胞的维持或功能中的重要性。
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles cause non-syndromic hearing loss, while more severe mutations of this gene result in USH1F. We localized protocadherin 15 to inner ear hair cell stereocilia, and to retinal photoreceptors by immunocytochemistry. Our results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function.