| Literature DB >> 29398121 |
Cornelis Blauwendraat1, Demis A Kia2, Lasse Pihlstrøm3, Ziv Gan-Or4, Suzanne Lesage5, J Raphael Gibbs6, Jinhui Ding6, Roy N Alcalay7, Sharon Hassin-Baer8, Alan M Pittman2, Janet Brooks6, Connor Edsall6, Sun Ju Chung9, Stefano Goldwurm10, Mathias Toft11, Claudia Schulte12, Dena Hernandez6, Andrew B Singleton6, Mike A Nalls13, Alexis Brice5, Sonja W Scholz14, Nicholas W Wood15.
Abstract
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations. Published by Elsevier Inc.Entities:
Keywords: H50Q; His50Gln; Parkinson's disease; SNCA
Mesh：
Substances：
Year: 2017 PMID： 29398121 PMCID： PMC5823280 DOI： 10.1016/j.neurobiolaging.2017.12.012
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673