Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.

ABSTRACT:

Objective

Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases.

Methods

In this study, we clinically evaluated 2 unrelated Spanish families diagnosed with PD, in which known PD genes were previously excluded, and performed whole-exome sequencing analyses in affected individuals for disease gene identification.

Results

Patients were diagnosed with typical PD without relevant distinctive symptoms. Two different novel mutations were identified in the CSMD1 gene. The CSMD1 gene, which encodes a complement control protein that is known to participate in the complement activation and inflammation in t

SUBMITTER: Ruiz-Martinez J 

PROVIDER: S-EPMC5540655 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature