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

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.