Current Alzheimer research · 2020
Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.
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Zhou Jiajia, Chen Yi, Meng Fanxia, Zhang Kan, Liu Xiaoyan, Peng Guoping
Аннотация
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.
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.