GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.
Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD.
Di Fonzo
Alessio
A
Department of Clinical Genetics, Erasmus MC, 3000 CA Rotterdam, The Netherlands.
Fabrizio
Edito
E
Thomas
Astrid
A
Fincati
Emiliana
E
Marconi
Roberto
R
Tinazzi
Michele
M
Breedveld
Guido J
GJ
Simons
Erik J
EJ
Chien
Hsin F
HF
Ferreira
Joaquim J
JJ
Horstink
Martin W
MW
Abbruzzese
Giovanni
G
Borroni
Barbara
B
Cossu
Giovanni
G
Dalla Libera
Alessio
A
Fabbrini
Giovanni
G
Guidi
Marco
M
De Mari
Michele
M
Lopiano
Leonardo
L
Martignoni
Emilia
E
Marini
Paolo
P
Onofrj
Marco
M
Padovani
Alessandro
A
Stocchi
Fabrizio
F
Toni
Vincenzo
V
Sampaio
Cristina
C
Barbosa
Egberto R
ER
Meco
Giuseppe
G
Oostra
Ben A
BA
Bonifati
Vincenzo
V
D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree
D002352:Carrier Proteins; C478016:GIGYF2 protein, human