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Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

机译:莱伯先天性黑蒙病个体可能在一个性状表现中涉及一个以上位点

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Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous retinal dystrophy. The causes of LCA have been unraveled partially at the molecular level. At least 14 genes have been reported that, when mutated, result in LCA. To understand the roles of the known genes in LCA, a group of outbred subjects from 60 apparently either recessive families, with one or more affected individuals, or isolated patients were evaluated. One affected individual from each family underwent comprehensive mutational analysis by direct DNA sequencing of all coding regions and splice junctions of 13 LCA genes. Mutations were identified in 70% of individuals. CEP290 made the largest contribution to the identified mutations, providing 43% of those mutant alleles. We identified seven families in which affected individuals with two mutant alleles, sufficient to cause disease, had an additional mutation at a second LCA locus. Our findings suggest that mutational load can be important to penetrance of the LCA phenotype.
机译:莱伯先天性黑蒙(LCA)是临床和遗传上异质性视网膜营养不良。 LCA的原因已在分子水平上部分阐明。据报道,至少有14个基因突变后会导致LCA。为了了解已知基因在LCA中的作用,对来自60个显然是隐性家族,一个或多个受影响个体或孤立患者的近交对象进行了评估。每个家庭的一名患病个体通过对13个LCA基因的所有编码区和剪接点进行直接DNA测序,进行了全面的突变分析。在70%的个体中发现了突变。 CEP290对鉴定出的突变贡献最大,提供了这些突变等位基因的43%。我们确定了七个家庭,其中具有两个足以引起疾病的突变等位基因的受影响个体在第二个LCA基因座处具有另一个突变。我们的研究结果表明突变负荷可能对LCA表型的渗透性很重要。

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