TY - JOUR
T1 - DNAJC13 genetic variants in parkinsonism
AU - Gustavsson, Emil K.
AU - Trinh, Joanne
AU - Guella, Ilaria
AU - Vilariño-Güell, Carles
AU - Appel-Cresswell, Silke
AU - Stoessl, A. Jon
AU - Tsui, Joseph K.
AU - Mckeown, Martin
AU - Rajput, Alex
AU - Rajput, Ali H.
AU - Aasly, Jan O.
AU - Farrer, Matthew J.
N1 - Publisher Copyright:
© 2014 International Parkinson and Movement Disorder Society.
PY - 2015/2/1
Y1 - 2015/2/1
N2 - Background: A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred. Methods: DNAJC13 was sequenced in 201 patients with parkinsonism and 194 controls from Canada. Rare (minor allele frequency < 0.01) missense variants identified in patients were genotyped in two Parkinson's disease case-controls cohorts. Results: Eighteen rare missense mutations were identified; four were observed in controls, three were observed in both patients and controls, and eleven were identified only in patients. Subsequent genotyping showed p.E1740Q and p.L2170W to be more frequent in patients, and p.R1516H being more frequent in controls. Additionally, p.P336A, p.V722L, p.N855S, p.R1266Q were seen in one patient each, and p.T1895M was found in two patients. Conclusion: Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility.
AB - Background: A novel mutation (p.N855S) in DNAJC13 has been linked to familial, late-onset Lewy body parkinsonism in a Dutch-German-Russian Mennonite multi-incident kindred. Methods: DNAJC13 was sequenced in 201 patients with parkinsonism and 194 controls from Canada. Rare (minor allele frequency < 0.01) missense variants identified in patients were genotyped in two Parkinson's disease case-controls cohorts. Results: Eighteen rare missense mutations were identified; four were observed in controls, three were observed in both patients and controls, and eleven were identified only in patients. Subsequent genotyping showed p.E1740Q and p.L2170W to be more frequent in patients, and p.R1516H being more frequent in controls. Additionally, p.P336A, p.V722L, p.N855S, p.R1266Q were seen in one patient each, and p.T1895M was found in two patients. Conclusion: Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility.
UR - http://www.scopus.com/inward/record.url?scp=84964297981&partnerID=8YFLogxK
U2 - 10.1002/mds.26064
DO - 10.1002/mds.26064
M3 - Journal articles
C2 - 25393719
AN - SCOPUS:84964297981
SN - 0885-3185
VL - 30
SP - 273
EP - 278
JO - Movement Disorders
JF - Movement Disorders
IS - 2
ER -
