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Parkinsonism Relat Disord. 2014 Jun;20(6):659-61. doi: 10.1016/j.parkreldis.2014.03.004. Epub 2014 Mar 18.

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.

Author information

1
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
2
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.
3
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
4
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
5
Graduate School of Regional Innovation Studies, Kii ALS/PDC Research Center, Mie University, Tsu, Mie, Japan.
6
Department of Medical Welfare, Faculty of Health Science, Suzuka University of Medical Science, Suzuka, Mie, Japan.
7
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
8
Department of Neurology, Tokai University School of Medicine, Kanagawa, Japan.
9
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.

Abstract

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.

KEYWORDS:

EIF4G1; Genetics; Mutation; Parkinson's disease

PMID:
24704100
PMCID:
PMC4034257
DOI:
10.1016/j.parkreldis.2014.03.004
[Indexed for MEDLINE]
Free PMC Article
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