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Presenilin 1 and APP gene mutations in early‐onset AD families from a southeast region of China
Author(s) -
Peng Guoping
Publication year - 2020
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1002/alz.041373
Subject(s) - psen1 , presenilin , missense mutation , early onset alzheimer's disease , genetics , amyloid precursor protein , mutation , gene , biology , exome , phenotype , exome sequencing , disease , alzheimer's disease , medicine
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. Thus, this study intends to investigate the spectrum of mutations in patients with EOFAD in Chinese population. Method We performed a whole‐exome sequencing and described relevant clinical features in a total of 67 patients from 3 families with EOFAD. Result 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 phenotype when compared with that of European.