EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.
Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese population we sequenced the entire gene coding region (31 exons) in 95 patients with an apparent autosomal dominant inherited form of Parkinson's disease. We detected three novel point mutations located in a poly-glutamic acid repeat within exon 10. These variants were screened through 224 Parkinson's disease cases and 374 normal controls from the Japanese population. We detected the poly-glutamic acid deletion in exon 10 in two additional patients with sporadic Parkinson's disease. Although the EIF4G1 variants identified in the present study were not observed in control subjects, co-segregation analyses and population-based screening data suggest they are not pathogenic. In conclusion, we did not identify novel or previously reported pathogenic mutations (including the p.A502V and p.R1205H mutants) within EIF4G1 in the Japanese population, thus future studies are warranted to elucidate the role of this gene in Parkinson's disease.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Kenya
K
Nishioka
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Manabu
M
Funayama
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Carles
C
Vilariño-Güell
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Kotaro
K
Ogaki
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Yuanzhe
Y
Li
Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.
Ryogen
R
Sasaki
Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.
Yasumasa
Y
Kokubo
Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan.
Shigeki
S
Kuzuhara
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Jennifer M
JM
Kachergus
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Stephanie A
SA
Cobb
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan.
Hirohide
H
Takahashi
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Yoshikuni
Y
Mizuno
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Matthew J
MJ
Farrer
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.
Owen A
OA
Ross
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Nobutaka
N
Hattori
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011099:Polyglutamic Acid / Q000235:genetics
C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; D011099:Polyglutamic Acid
EIF4G1; Genetics; Mutation; Parkinson's disease