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

[ Vol. 17 , Issue. 6 ]

Author(s):

Jiajia Zhou, Yi Chen, Fanxia Meng, Kan Zhang, Xiaoyan Liu and Guoping Peng*   Pages 540 - 546 ( 7 )

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 patients 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.

Affiliation:

Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Department of Neurology, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou



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