Reference : A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indica...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/138699
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
English
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 mailto [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 mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Murata, Miho [> >]
Mok, Vincent [> >]
Jasinska-Myga, Barbara [> >]
Mellick, George D. [> >]
Morrison, Karen E. [> >]
Meitnger, Thomas [> >]
Zimprich, Alexander [> >]
Opala, Grzegorz [> >]
Pramstaller, Peter P. [> >]
Pichler, Irene [> >]
Park, Sung Sup [> >]
Quattrone, Aldo [> >]
Rogaeva, Ekaterina [> >]
Ross, Owen A. [> >]
Stefanis, Leonidas [> >]
Stockton, Joanne D. [> >]
Satake, Wataru [> >]
Silburn, Peter A. [> >]
Strom, Tim M. [> >]
Theuns, Jessie [> >]
Tan, Eng-King [> >]
Toda, Tatsushi [> >]
Tomiyama, Hiroyuki [> >]
Uitti, Ryan J. [> >]
Van Broeckhoven, Christine [> >]
Wirdefeldt, Karin [> >]
Wszolek, Zbigniew [> >]
Xiromerisiou, Georgia [> >]
Yomono, Harumi S. [> >]
Yueh, Kuo-Chu [> >]
Zhao, Yi [> >]
Gasser, Thomas [> >]
Maraganore, Demetrius [> >]
Kruger, Rejko [> >]
2012
Journal of Medical Genetics
49
11
721-6
Yes (verified by ORBi)
0022-2593
1468-6244
England
[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.
http://hdl.handle.net/2268/138699
10.1136/jmedgenet-2012-101155

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