Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.,Current Alzheimer Research

当前位置： X-MOL 学术 › Curr. Alzheimer Res. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.
Current Alzheimer Research ( IF 1.8 ) Pub Date : 2020-05-01 , DOI: 10.2174/1567205017666200624195809
Jiajia Zhou ₁ , Yi Chen ₁ , Fanxia Meng ₁ , Kan Zhang ₁ , Xiaoyan Liu ₁ , Guoping Peng ₁

Affiliation

Background: Early-Onset Familial Alzheimer’s Disease (EOFAD) has been reported to be associated with Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), and Amyloid Precursor Protein (APP) genes. The spectrum of mutations in Chinese patients with EOFAD was rarely investigated.

Objective: To investigate the spectrum of mutations in patients with EOFAD in Chinese population.

Methods: We performed whole-exome sequencing and described relevant clinical features in a total of 67 subjects from 3 families with EOFAD.

Results: A splice mutation (p.S290C) in PSEN1 and a missense mutation (p.V717I) in APP were identified.

Conclusion: The variant p. S290C (c.869-2>G) in PSEN1 in Chinese EOAD family revealed different clinical phenotypes when compared with that of Europeans.

更新日期：2020-05-01

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南11