Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

ABSTRACT: Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.(1) Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.(2) reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ?45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B.

SUBMITTER: Lesage S 

PROVIDER: S-EPMC4821081 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature