TY - JOUR
T1 - Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
AU - International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium
AU - Blauwendraat, Cornelis
AU - Kia, Demis A.
AU - Pihlstrøm, Lasse
AU - Gan-Or, Ziv
AU - Lesage, Suzanne
AU - Gibbs, J. Raphael
AU - Ding, Jinhui
AU - Alcalay, Roy N.
AU - Hassin-Baer, Sharon
AU - Pittman, Alan M.
AU - Brooks, Janet
AU - Edsall, Connor
AU - Chung, Sun Ju
AU - Goldwurm, Stefano
AU - Toft, Mathias
AU - Schulte, Claudia
AU - Hernandez, Dena
AU - Singleton, Andrew B.
AU - Nalls, Mike A.
AU - Brice, Alexis
AU - Scholz, Sonja W.
AU - Wood, Nicholas W.
AU - Noyce, Alastair J.
AU - Tucci, Arianna
AU - Charlesworth, Gavin
AU - Tan, Manuela
AU - Houlden, Henry
AU - Morris, Huw R.
AU - Plun-Favreau, Helene
AU - Holmans, Peter
AU - Hardy, John A.
AU - Bras, Jose M.
AU - Quinn, John
AU - Mok, Kin Y.
AU - Billingsley, Kimberley
AU - Lewis, Patrick
AU - Guerreiro, Rita
AU - Lovering, Ruth
AU - Ogalla, Raquel Duran
AU - R’bibo, Lea
AU - Ryten, Mina
AU - Escott-Price, Valentina
AU - Chelban, Viorica
AU - Foltynie, Thomas
AU - Sheerin, Una Marie
AU - Williams, Nigel
AU - Danjou, Fabrice
AU - Corvol, Jean Christophe
AU - Martinez, Maria
AU - Klein, Christine
PY - 2018/4/1
Y1 - 2018/4/1
N2 - SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.
AB - SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.
UR - http://www.scopus.com/inward/record.url?scp=85041606064&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2017.12.012
DO - 10.1016/j.neurobiolaging.2017.12.012
M3 - Journal articles
C2 - 29398121
AN - SCOPUS:85041606064
SN - 0197-4580
VL - 64
SP - 159.e5-159.e8
JO - Neurobiology of Aging
JF - Neurobiology of Aging
ER -
