PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
The GIGYF2 (Grb10-Interacting GYF Protein-2) gene has recently been proposed to be the responsible gene for the PARK11 locus. Ten different putative pathogenic variants were identified in cohorts of Parkinson's disease (PD) patients from Italy and France. Among these variants Asn56Ser and Asn457Thr were found repeatedly. In the present study we screened 669 PD patients (predominantly of central European origin) and 1051 control individuals for the presence of these two variants. Asn56Ser was found in one patient with a positive family history of the disease and in one control individual. The affected sister of the patient did not carry this variant. Asn457Thr was found in one patient, who was exceptional for his Egyptian origin and in three control individuals. This variant was not found in 50 control individuals from Egypt. We conclude that neither of these two variants plays a major role in the pathogenesis of PD in our study population.
Zimprich
Alexander
A
Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria. alexander.zimprich@meduniwien.ac.at
Schulte
Claudia
C
Reinthaler
Eva
E
Haubenberger
Dietrich
D
Balzar
Jörg
J
Lichtner
Peter
P
El Tawil
Salwa
S
Edris
S
S
Foki
Thomas
T
Pirker
Walter
W
Katzenschlager
Regina
R
Daniel
Gerhard
G
Brücke
Thomas
T
Auff
Eduard
E
Gasser
Thomas
T
D000368:Aged; D001216:Asparagine / Q000235:genetics*; D001317:Austria; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D044465:White People
D002352:Carrier Proteins; C478016:GIGYF2 protein, human; D013912:Threonine; D012694:Serine; D001216:Asparagine