Rare ABCA7 variants in 2 German families with Alzheimer disease.

ABSTRACT:

Objective

The aim of this study was to identify variants associated with familial late-onset Alzheimer disease (AD) using whole-genome sequencing.

Methods

Several families with an autosomal dominant inheritance pattern of AD were analyzed by whole-genome sequencing. Variants were prioritized for rare, likely pathogenic variants in genes already known to be associated with AD and confirmed by Sanger sequencing using standard protocols.

Results

We identified 2 rare ABCA7 variants (rs143718918 and rs538591288) with varying penetrance in 2 independent German AD families, respectively. The single nucleotide variant (SNV) rs143718918 causes a missense mutation, and the deletion rs538591288 causes a frameshift mutation of ABCA7. Both variants have previously be

SUBMITTER: May P 

PROVIDER: S-EPMC5863691 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature