GPR98 mutations cause Usher syndrome type 2 in males
GPR98 mutations cause Usher syndrome type 2 in males
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DOI：
10.1136/jmg.2008.059626
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发表时间：
2009-04-01
影响因子：
4
通讯作者：
Bolz, H. J.
中科院分区：
文献类型：
--
作者：
Ebermann, I.;Wiesen, M. H. J.;Bolz, H. J.
大GPR98基因突变是Usher综合征2C型（USH2C）的基础，迄今为止描述的所有患者均为女性。据推测，GPR98突变在雄性中引起更严重的表型，并最终致死。我们首次描述了两名男性患者USH2与新的GPR98突变。一名男性患者和他的受影响的妹妹的临床特征显示，在两个典型的USH2表型。GPR98可能被排除在既往研究的系统研究之外，USH2C患者的比例可能被低估。在两种性别的USH 2患者中均应考虑GPR98。
Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males. We describe for the first time two male patients with USH2 with novel GPR98 mutations. Clinical characterization of a male patient and his affected sister revealed a typical USH2 phenotype in both. GPR98 may have been excluded from systematic investigation in previous studies, and the proportion of patients with USH2C probably underestimated. GPR98 should be considered in patients with USH2 of both sexes.