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.

OriginalspracheEnglisch
ZeitschriftNeurobiology of Aging
Jahrgang64
Seiten (von - bis)159.e5-159.e8
ISSN0197-4580
DOIs
PublikationsstatusVeröffentlicht - 01.04.2018

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  • Querschnittsbereich: Medizinische Genetik

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