A rare variant in the UQCRC1 gene, p.(Gly405Val) in three Austrian Parkinson's patients

Parkinsonism Relat Disord. 2025 Feb:131:107250. doi: 10.1016/j.parkreldis.2024.107250. Epub 2024 Dec 21.

Abstract

Background: Variants in the UQCRC1 gene have been proposed to cause autosomal dominant Parkinson's disease with neuropathy. However, definitive confirmation of UQCRC1 as an authentic Parkinson's gene remains elusive, as follow-up studies have not yet provided conclusive evidence.

Methods: 382 Austrian Parkinson's patients, particularly selected for familial and/or early onset cases, were Exome sequenced.

Results: We found three unrelated patients with a positive family history of the disease who shared the same rare missense variant in the UQCRC1 gene: c.1214G > T; p.(Gly405Val). The variant is very rare in the control population, with an allele frequency of 2 × 10-6 in the gnomAD database. None of the three patients carries a rare variant in a monogenic Parkinson's disease gene.

Conclusion: We suggest that UQCRC1 p.(Gly405Val) probably contributes to the development of the disease in these three patients. Our findings provide further evidence that UQCRC1 is a 'bona fide' Parkinson's disease gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Austria
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Parkinson Disease* / genetics