家族性良性慢性天疱疮一家系及ATP2C1基因突变分析

目的 报道家族性良性慢性天疱疮一家系，并对ATP2C1基因突变进行分析。方法 收集家族性良性慢性天疱疮家系成员的一般资料，进行临床调查，绘制家系图谱。采用PCR及Sanger直接测序法对该家系中4例患者的ATP2C1基因进行检测，并以该家系3例健康者和100例无亲缘关系的正常人作为对照。结果 4例家族性良性慢性天疱疮患者ATP2C1基因的第21号外显子的第472位核苷酸由G变为A，该突变导致原先158位的天冬氨酸变为天冬酰胺（p.Asp158Asn）的错义突变。而家系中健康对照及无亲缘关系的正常人均未发现该突变。结论 ATP2C1基因的第21号外显子的第472位核苷酸由G变为A是ATP2C1基因新的突变位点，可能是家族性良性慢性天疱疮家系发病的主要原因。

A family with Hailey-Hailey disease and its ATP2C1 gene mutation analysis

Objective To report a family with Hailey-Hailey disease (HHD) and to analyze the ATP2C1 gene mutation. Methods The general data of HHD family members were collected for clinical investigation, and the family tree was drawn. ATP2C1 gene was detected by PCR and Sanger direct sequencing in 4 HHD patients of the family, and 3 healthy members in the family and 100 unrelated normal volunteers were taken as controls. Results In the 4 HHD patients, a novel missense mutation (c.472G>A) on the 21^th exon of the ATP2C1 gene was identified, which resulted in a missense mutation of aspartic acid (p.Asp158Asn). But the mutation was not found in the healthy members in the family or the unrelated normal individuals. Conclusion The missense mutation c.472G>A on exon 21 of ATP2C1 gene is a new mutation site, which may be the main cause of HHD.