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Sharma, M.* ; Ioannidis, J.P.A.* ; Aasly, J.O.* ; Annesi, G.* ; Brice, A.* ; Bertram, L.* ; Bozi, M.* ; Barcikowska, M.* ; Crosiers, D.* ; Clarke, C.E.* ; Facheris, M.F.* ; Farrer, M.* ; Garraux, G.* ; Gispert, S.* ; Auburger, G.* ; Vilariño-Güell, C.* ; Hadjigeorgiou, G.M.* ; Hicks, A.A.* ; Hattori, N.* ; Jeon, B.S.* ; Jamrozik, Z.* ; Krygowska-Wajs, A.* ; Lesage, S.* ; Lill, C.M.* ; Lin, J.J.* ; Lynch, T.* ; Lichtner, P. ; Lang, A.E.* ; Libioulle, C.* ; Murata, M.* ; Mok, V.* ; Jasinska-Myga, B.* ; Mellick, G.D.* ; Morrison, K.E.* ; Meitinger, T. ; * ; Opala, G. ; Pramstaller, P.P.* ; Pichler, I.* ; Park, S.S.* ; Quattrone, A.* ; Rogaeva, E.* ; Ross, O.A.* ; Stefanis, L.* ; Stockton, J.D.* ; Satake, W.* ; Silburn, P.A.* ; Strom, T.M.* ; Theuns, J.* ; Tan, E.K.* ; Toda, T.* ; Tomiyama, H.* ; Uitti, R.J.* ; van Broeckhoven, C.* ; Wirdefeldt, K.* ; Wszolek, Z.* ; Xiromerisiou, G.* ; Yomono, H.S.* ; Yueh, K.C.* ; Zhao, Y.* ; Gasser, T.* ; Maraganore, D.* ; Kruger, R.*

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

J. Med. Genet. 49, 721-726 (2012)
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Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Genome-wide Association ; Retromer Complex ; Identification ; Metaanalyses ; Population ; Mutations ; Locus
ISSN (print) / ISBN 0022-2593
e-ISSN 1468-6244
Journal Journal of Medical Genetics
Quellenangaben Volume: 49, Issue: 11, Pages: 721-726 Article Number: , Supplement: ,
Publisher BMJ Publishing Group
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)