Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

ABSTRACT:

Objectives

To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD.

Methods

In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an approach used recently to study schizophrenia in 22q11.2DS, here we tested candidate gene-sets relevant to PD.

Results

No mutations common to the cases with PD were found in the intact 22q11.2 region. While all were negative for rare mutations in a gene-set comprising PD disease-causing and risk genes, another candidate gene-set of 1000 genes functionally relevant to

SUBMITTER: Butcher NJ 

PROVIDER: S-EPMC5400231 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature