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

doi:10.1136/jmedgenet-2012-101155

Article

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

Journal of medical genetics - 1 Nov 2012

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 Gaetan, Gispert Suzana, Auburger Georg, Vilariño-Güell 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 Cecile, 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, Krüger Rejko

Abstract excerpt

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...

Topics

Female
Genetic Association Studies
Genetic Predisposition to Disease

Humans

Male

Mutation

Parkinson Disease

Risk Factors

Vesicular Transport Proteins

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