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BMJ Publishing Group, Journal of Medical Genetics, 11(49), p. 721-726, 2012

DOI: 10.1136/jmedgenet-2012-101155

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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Journal article published in 2012 by C. van Broeckhoven, Manu Sharma, Harumi S. Yomono, Kuo-Chu Yueh, Ioannidis Jp, Aasly Jo, John P. A. Ioannidis, Grazia Annesi, Jan O. Aasly, Alexis Brice, Lars Bertram, Maria Bozi, Carl E. Clarke, Maria Barcikowska, Maurizio F. Facheris and other authors.
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Abstract

BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. METHODS AND RESULTS: We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. CONCLUSIONS: Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.