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

Curr Alzheimer Res. 2020;17(6):540-546. doi: 10.2174/1567205017666200624195809.

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 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.

Keywords: Early-onset; alzheimer's disease; amyloid precursor protein; familial; gene mutation; presenilin 1; whole-exome sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics*
  • Asian People / genetics
  • China / epidemiology
  • Exome Sequencing
  • Female
  • Humans
  • Male
  • Mental Status and Dementia Tests
  • Middle Aged
  • Mutation / genetics
  • Mutation, Missense / genetics
  • Presenilin-1 / genetics*

Substances

  • APP protein, human
  • Amyloid beta-Protein Precursor
  • PSEN1 protein, human
  • Presenilin-1