PSEN1基因p.F105L突变相关的一个早发家族性阿尔茨海默病家系特征分析

Presenilin 1 p. F105L mutation was associated with a Chinese pedigree with early-onset familial Alzheimer＇s disease

目的探讨一个早发型阿尔茨海默病家系临床特征及其PSENl基因新突变特点。方法收集2016年就诊于河南省人民医院神经内科的一个早发型家族性阿尔茨海默病（EO-FAD）家系30例成员的临床特征（病史、体格检查及影像学检查），应用高通量二代测序及Sanger测序验证PSENl基因突变位点。同时选择100名无亲缘关系健康人作为对照。结果家系中3例成员携带PSENl基因P．F105L位点突变，临床症状和影像学结果符合阿尔茨海默病诊断。结论中国人群中发现PSEN1基因P．F105L位点突变，该位点突变可能导致此家族性阿尔茨海默病家系致病。

Objective To investigate the clinical manifestations of an early-onset Alzheimer＇s family and the novel mutation sites of PSEN1 gene. Methods Clinical data was collected from 30 members of a family with early onset Alzheimer＇s disease from Neurology Department of Henan Province People＇s Hospital in 2016, and high-throughput sequencing and sanger sequencing were used to detect and further validate the PSEN1 gene mutation. At the same time, 100 unrelated healthy people were selected as controls. Results A total of 3 members of the family carried PSEN1 （p. F105L mutation）. The clinical symptoms or imaging of the three people were consistent with the diagnosis of Alzheimer＇s disease. Conclusion The p. F105L mutation of the PSEN1 gene has been found in the Chinese population, which may be involved in the pathogenesis of this familial Alzheimer＇s disease.