Identification of Novel Mutations in the XLRS1 Gene in Chinese Patients with X-linked Juvenile Retinoschisis
Identification of Novel Mutations in the XLRS1 Gene in Chinese Patients with X-linked Juvenile Retinoschisis
复制标题
中国 X 连锁青少年视网膜劈裂症患者 XLRS1 基因新突变的鉴定
DOI：
10.1080/02713680701486410
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发表时间：
2007
影响因子：
2
通讯作者：
Huangxuan Shen
中科院分区：
文献类型：
--
作者：
Meizhen Zeng;C. Yi;Xiangming Guo;Xiao;Yanhong Deng;Juan Wang;Huangxuan Shen
x连锁少年视网膜裂（XLRS）是年轻男性黄斑变性的主要原因。在这项研究中，我们分析了4例散发性XLRS患者和中国一个最近确诊的受影响家庭的XLRS1基因的所有6个外显子。我们发现有五种不同的突变，其中四种含有错义点突变，一种含有移帧缺失。在这些突变中，c.644A >t和c.520delC都是新的，以前没有报道过。此外，该家族的所有第二代后代和大部分第三代后代都携带X染色体突变。XLRS1基因新突变的发现将增加关于导致XLRS的遗传异常谱的可用信息。尽管有限的数据未能揭示突变与疾病表型之间的相关性，但我们对XLRS1基因新突变的鉴定将有助于XLRS疾病的早期正确诊断和预后遗传咨询。
X-linked juvenile retinoschisis (XLRS) is a major cause of macular degeneration in young men. In this study we analyzed all six exons of the XLRS1 gene in four sporadic XLRS patients and in an affected family in China who were recently diagnosed. We found there are five different mutations with four containing missense point mutations and one having a frame-shift deletion. Among these mutations both c.644A > T and c.520delC are novel and have not been previously reported. Moreover all the second-generation offsprings and most of the third-generation ones in the affected family were found to carry the mutations bearing X chromosome. The discovery of novel mutations in the XLRS1 gene would increase the available information about the spectrum of genetic abnormalities causing XLRS. Although the limited data failed to reveal a correlation between mutations and disease phenotypes our identification of novel mutations in the XLRS1 gene will facilitate early and correct diagnosis and genetic counseling regarding the prognosis of XLRS disease.
影响因子：
3.5
作者：
Grayson, C;Reid, SNM;Trump, D
通讯作者：
Trump, D
影响因子：
4.4
作者：
Zeng, Y;Takada, Y;Sieving, PA
通讯作者：
Sieving, PA
影响因子：
--
作者：
Eksandh, LC;Ponjavic, V;Sieving, PA
通讯作者：
Sieving, PA