未经证实:对称遗传性色素沉着病(DSH)是一种罕见的常染色体显性皮肤病。ADAR1基因的突变是该疾病的发病机理。
UNASSIGNED:本研究旨在鉴定两个中国DSH家族中ADAR1基因的突变。
UNASSIGNED:来自两个中国家庭的8例患者被临床诊断为DSH。从患者和未受影响的个体收集血液样品。对ADAR1基因的整个编码区的所有聚合酶链反应产物进行Sanger测序以鉴定突变。使用突变Taster软件来预测变体对所得蛋白质的影响。
未经批准:c.3358-3359insT(p。在受影响的纯种1成员中发现了外显子12中的L1053fs-1092X)突变。在pandigree2中,c.3820-3821insG(p。在外显子15中发现了G1207fs-1213X)突变。在100个无关的健康人群中没有发现这两个突变。在这项研究中,这两种突变都被MutationTaster软件破坏。
未经证实:我们在ADAR1基因中发现了两个新的移码突变。我们的研究扩展了DSH中ADAR1基因突变的数据库。
UNASSIGNED: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder.
UNASSIGNED: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH.
UNASSIGNED: Eight patients from two Chinese families were diagnosed with DSH clinically. Blood samples were collected from the patients and unaffected individuals. Sanger sequencing for all polymerase chain reaction products of the whole coding regions of the ADAR1 gene was performed to identify the mutations. Mutation Taster software was used to predict the impact of the variant on the resultant protein.
UNASSIGNED: The c.3358-3359insT (p.L1053fs-1092X) mutation in exon 12 was found in affected members of the pedigree1. In pedigree2, the c.3820-3821insG (p.G1207fs-1213X) mutation in exon 15 was found. These two mutations were not found in 100 unrelated healthy people. In this study, both mutations were damaged by the Mutation Taster software.
UNASSIGNED: We identified two novel frameshift mutations in the ADAR1 gene. Our study expands the database of ADAR1 gene mutations in DSH.