新型原钙黏蛋白PCDH15中的突变会导致1F型Usher综合征。
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
作者信息
Alagramam K N, Yuan H, Kuehn M H, Murcia C L, Wayne S, Srisailpathy C R, Lowry R B, Knaus R, Van Laer L, Bernier F P, Schwartz S, Lee C, Morton C C, Mullins R F, Ramesh A, Van Camp G, Hageman G S, Woychik R P, Smith R J
机构信息
Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA.
出版信息
Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709.
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 in one USH1F family and a nonsense mutation in exon 2 in the second. Consistent with the phenotypes observed in these families, we demonstrated expression of PCDH15 in the retina and cochlea by RT-PCR and immunohistochemistry. This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function.
我们已经确定了两个患有1F型综合征性耳聋的家系中1F型Usher综合征（USH1F）的分子基础。通过荧光原位杂交，我们将小鼠原钙黏蛋白Pcdh15的人类同源物定位到由USH1F基因座定义的连锁区间。我们确定了这个新原钙黏蛋白的基因组结构，在一个USH1F家系的第10外显子中发现了一个单碱基缺失，在第二个家系的第2外显子中发现了一个无义突变。与这些家系中观察到的表型一致，我们通过逆转录聚合酶链反应（RT-PCR）和免疫组织化学证明了PCDH15在视网膜和耳蜗中的表达。本报告表明，原钙黏蛋白对于维持正常的视网膜和耳蜗功能至关重要。
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