Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

ABSTRACT:

Objective

Autosomal-dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP). Previously, we reported a rare PSEN2 frameshift variant in an early-onset AD case (PSEN2 p.K115Efs*11). In this study, we characterize a second family with the same variant and analyze cellular transcripts from both patient fibroblasts and brain lysates.

Methods

We combined genomic, neuropathological, clinical, and molecular techniques to characterize the PSEN2 K115Efs*11 variant in two families.

Results

Neuropathological and clinical evaluation confirmed the AD diagnosis in two individuals carrying the PSEN2 K115Efs*11 variant. A truncated transcript from the variant allel

SUBMITTER: Braggin JE 

PROVIDER: S-EPMC6469258 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature