遗传性对称性色素异常症

Clinical report and genetic analysis of dyschromatosis symmetrical hereditaria

报告1例遗传性对称性色素异常症家系并进行基因突变检测。先证者双手及足背褐色斑点与色素减退斑9年。皮肤科检查:双手、足背出现散在褐色斑点与色素减退斑。基因检测发现先证者及其他患者ADAR基因第8外显子存在新的突变c.2628delA。c.2628delA突变为该家系的致病突变,基因型与表型无明确相关性。

A family with hereditary symmetrical hereditaria is reported.Gene mutation was tested.Peripheral blood DNA was extracted from family members and 100 normal controls,and the exon and flank sequences were amplified by PCR and sequenced directly.A new mutation C.2628delA was found in the exon 8 of ADAR gene.C.2628delA mutation is the pathogenic mutation of this family,and there is no clear corelation between genotype and phenotype.