Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes
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DOI：
10.1038/gim.2012.86
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发表时间：
2012-12-01
影响因子：
8.8
通讯作者：
Alkuraya, Fowzan S.
中科院分区：
文献类型：
--
作者：
Aldahmesh, Mohammed A.;Khan, Arif O.;Alkuraya, Fowzan S.
背景：儿童白内障是一种重要的可预防致盲性疾病。以前的研究估计有10-25%的情况下，是遗传在pathogeneic.Methods：在努力描述我们的人群中的白内障的遗传学，我们进行了一系列的38指数patients.Results：儿科白内障是遗传在至少79%的研究families的综合临床和基因组分析（包括autoproteinome和外显子组分析）。虽然晶体蛋白占大多数的突变等位基因，其他基因的突变，包括隐性突变的基因，通常导致疾病的显性方式。此外，几个新的候选基因（MFSD 6L，AKR 1 E2，RNLS，和CYP 51 A1）被identified.Conclusion：小儿白内障是一种典型的遗传性疾病，通常是常染色体隐性遗传，在沙特阿拉伯。虽然定义一个特定的白内障表型有时可以预测遗传原因，基因组分析往往需要解开的致病突变鉴于显着的遗传异质性。新的候选基因需要在未来的研究中进行独立的确认。遗传医学2012：14（12）：955-962
Background: Pediatric cataract is an important preventable blinding disease. Previous studies have estimated 10-25% of cases to be genetic in etiology.Methods: In an effort to characterize the genetics of cataract in our population, we have conducted a comprehensive clinical and genomic analysis (including autozygome and exome analysis) on a series of 38 index patients.Results: Pediatric cataract is genetic in at least 79% of the study families. Although crystallins accounted for most of the mutant alleles, mutations in other genes were encountered, including recessive mutations in genes that usually cause the disease in a dominant-manner. In addition, several novel candidate genes (MFSD6L, AKR1E2, RNLS, and CYP51A1) were identified.Conclusion: Pediatric cataract is typically a genetic disease, usually autosomal recessive, in Saudi Arabia. Although defining a specific cataract phenotype can sometimes predict the genetic cause, genomic analysis is often required to unravel the causative mutation given the marked genetic heterogeneity. The identified novel candidate genes require independent confirmation in future studies. Genet Med 2012:14(12):955-962