Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)159.e5-159.e8
JournalNeurobiology of Aging
Volume64
DOIs
Publication statusPublished - Apr 1 2018

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Keywords

  • H50Q
  • His50Gln
  • Parkinson's disease
  • SNCA

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium (2018). Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging, 64, 159.e5-159.e8. https://doi.org/10.1016/j.neurobiolaging.2017.12.012