北村网状肢端色素沉着症1例及ADAM10基因新型突变分析

A Case of Reticulate Acropigmentation of Kitamura with a Novel ADAM10 Gene Mutation

目的 检测分析1例表现为肢端皮肤色素沉着伴点状凹陷患者的基因变异情况。方法 收集患者及其父母的临床资料及外周血,通过二代测序及Sanger测序技术发现并验证基因突变。结果 患者临床表现符合北村网状肢端色素沉着症,基因检测发现ADAM10基因c.1715G>T(p.Cys572Phe)杂合突变,患者父母及正常对照均未发现此位点变异。结论 北村网状肢端色素沉着症具有独特的临床表现和皮肤镜特点,ADAM10基因c.1715G>T(p.Cys572Phe)为新型错义突变,可能是其病因之一。

Objective To detect and analyze the genetic mutation of a patient with acral pigmentation and punctate depression.Methods Clinical data and peripheral blood of the patient and her parents were collected,and gene mutations were identified and verified by next-generation sequencing and Sanger sequencing.Results The clinical manifestation is consistent with reticulate acropigmentation of Kitamura(RAK).Genetic test revealed a heterozygous missense mutation c.1715GT(p.Cys572Phe) in the ADAM10 gene.The mutation was not detected in her parents and healthy controls.Conclusion RAK has unique clinical manifestations and dermoscopic features.The novel c.1715GT(p.Cys572Phe) missense mutation in the ADAM10 gene may contribute to the development of RAK.