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.