A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
- Sharma, M.
- Ioannidis, J.
- Aasly, J.
- Annesi, G.
- Brice, A.
- Bertram, L.
- Bozi, M.
- Barcikowska, M.
- Crosiers, D.
- Clarke, C.
- Facheris, M.
- Farrer, M.
- Garraux, G.
- Gispert, S.
- Auburger, G.
- Vilarino-Guell, C.
- Hadjigeorgiou, G.
- Hicks, A.
- Hattori, N.
- Jeon, B.
- Jamrozik, Z.
- Krygowska-Wajs, A.
- Lesage, S.
- Lill, C.
- Lin, J.
- Lynch, T.
- Lichtner, P.
- Lang, A.
- Libioulle, C.
- Murata, M.
- Mok, V.
- Jasinska-Myga, B.
- Mellick, G.
- Morrison, K.
- Meitnger, T.
- Zimprich, A.
- Opala, G.
- Pramstaller, P.
- Pichler, I.
- Park, S.
- Quattrone, A.
- Rogaeva, E.
- Ross, O.
- Stefanis, L.
- Stockton, J.
- Satake, W.
- Silburn, P.
- Strom, T.
- Theuns, J.
- Tan, E.
- Toda, T.
- Tomiyama, H.
- Uitti, R.
- Van Broeckhoven, C.
- Wirdefeldt, K.
- Wszolek, Z.
- Xiromerisiou, G.
- Yomono, H.
- Yueh, K.
- Zhao, Y.
- Gasser, T.
- Maraganore, D.
- Krüger, R.
DOIAbstract
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 ...
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