Ontology highlight
ABSTRACT:
SUBMITTER: Jiang B
PROVIDER: S-EPMC7366492 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Frontiers in genetics 20200710
Familial Alzheimer's disease (FAD) present as a positive family history of cognitive decline, with early onset and an autosomal dominant inheritance pattern. FAD is mainly caused by the mutations in the genes encoding for amyloid precursor protein (<i>APP</i>), presenilin-1 (<i>PSEN1</i>), and presenilin-2 (<i>PSEN2</i>). In the present study, we identified a variant (c.529T > G, p.Phe177Val) in <i>PSEN1</i> across three generations in a Chinese family with FAD using whole-exome sequencing. The ...[more]