The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

ABSTRACT:

Objective

To identify the causal gene in a multi-incident U.S. kindred with Parkinson's disease (PD).

Methods

We characterized a family with a classical PD phenotype in which 7 individuals (5 males and 2 females) were affected with a mean age at onset of 46.1 years (range, 29-57 years). We performed whole exome sequencing on 4 affected and 1 unaffected family members. Sanger-sequencing was then used to verify and genotype all candidate variants in the remainder of the pedigree. Cultured cells transfected with wild-type or mutant constructs were used to characterize proteins of interest.

Results

We identified a missense mutation (c.574G > A; p.G192R) in the RAB39B gene that closely segregated with disease and exhibited X-linked dominant inheritance with reduced penetra

SUBMITTER: Mata IF 

PROVIDER: S-EPMC4581468 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature