[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Sharma, Manu
Ioannidis, John P. A.
Aasly, Jan O.
Annesi, Grazia
Brice, Alexis
Bertram, Lars
Bozi, Maria
Barcikowska, Maria
Crosiers, David
Clarke, Carl E.
Facheris, Maurizio F.
Farrer, Matthew
Garraux, Gaëtan ; Université de Liège - ULiège > Département des sciences cliniques > Neurologie
Gispert, Suzana
Auburger, Georg
Vilarino-Guell, Carles
Hadjigeorgiou, Georgios M.
Hicks, Andrew A.
Hattori, Nobutaka
Jeon, Beom S.
Jamrozik, Zygmunt
Krygowska-Wajs, Anna
Lesage, Suzanne
Lill, Christina M.
Lin, Juei-Jueng
Lynch, Timothy
Lichtner, Peter
Lang, Anthony E.
LIBIOULLE, Cécile ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
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