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Current Alzheimer Research

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ISSN (Print): 1567-2050
ISSN (Online): 1875-5828

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Research Article

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China

Author(s): Jiajia Zhou, Yi Chen, Fanxia Meng, Kan Zhang, Xiaoyan Liu and Guoping Peng*

Volume 17, Issue 6, 2020

Page: [540 - 546] Pages: 7

DOI: 10.2174/1567205017666200624195809

Price: $65

Abstract

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.

Keywords: Early-onset, familial, alzheimer's disease, presenilin 1, amyloid precursor protein, gene mutation, whole-exome sequencing.

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