Ultra-rare mutations in <i>SRCAP</i> segregate in Caribbean Hispanic families with Alzheimer disease.

ABSTRACT:

Objective

To identify rare coding variants segregating with late-onset Alzheimer disease (LOAD) in Caribbean Hispanic families.

Methods

Whole-exome sequencing (WES) was completed in 110 individuals from 31 Caribbean Hispanic families without APOE ε4 homozygous carriers. Rare coding mutations segregating in families were subsequently genotyped in additional families and in an independent cohort of Caribbean Hispanic patients and controls. SRCAP messenger RNA (mRNA) expression was assessed in whole blood from mutation carriers with LOAD, noncarriers with LOAD, and healthy elderly controls, and also from autopsied brains in 2 clinical neuropathologic cohort studies of aging and dementia.

Results

Ten ultra-rare missense mutations in the Snf2-related CREBB

SUBMITTER: Vardarajan BN 

PROVIDER: S-EPMC5570674 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature