9例色素异常性皮肤淀粉样变患者GPNMB基因序列分析

Sequence analysis of GPNMB in 9 patients with amyloidosis cutis dyschromica

目的:研究色素异常性皮肤淀粉样变(ACD)患者的临床特征及GPNMB基因突变情况。方法:回顾性分析9例ACD患者的临床资料,对患者及部分患者父母进行GPNMB基因检测和序列分析,采用Mutation-Taster预测突变位点的致病性。结果:9例患者中:c.565C>T纯合突变6例,其中4例经家系验证符合常染色体隐性遗传;c.660T>G、c.10561056delT、c.754G>A致病突变各1例。结论:c.565C>T可能为我国ACD患者的常见突变位点,新发位点c.754G>A的致病性和功能仍有待深入研究。

Objective:To investigate the clinical characteristics and mutations of GPNMB gene in patients with amyloidosis cutis dyschromica(ACD).Methods:We retrospectively analyzed the clinical data of 9 ACD patients.Sanger sequencing was used to analyze the GPNMB gene sequence in the patients and some of their parents.Results:Six patients had homozygous mutation of c.565 C>T.Four of them were identified as autosomal recessive inheritance.Mutation of either c.660 T>G,or c.10561056 delT,or c.754 G>A each was found in one patient.Conclusions:c.565 C>T may be a common mutation site in ACD patients in China.The pathogenesis and function of the new mutation,c.754 G>A,warrant further study.