UQCRC1 geninde nadir bir varyant, üç Avusturya Parkinson hastasında p.(Gly405Val).

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BackgroundVariants 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.Methods382 Austrian Parkinson's patients, particularly selected for familial and/or early onset cases, were Exome sequenced.ResultsWe 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.ConclusionWe 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.

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