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ISRN Neurology
Volume 2012 (2012), Article ID 508308, 4 pages
http://dx.doi.org/10.5402/2012/508308
Research Article

UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family

1Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan
2Genomic Information Analysis Unit, Advanced Molecular Epidemiology Research Institute, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan
3Molecular Neuroscience Research Center, Shiga University of Medical Science, Otsu 520-2192, Japan

Received 6 July 2012; Accepted 9 August 2012

Academic Editors: C.-Y. Hsu, D. Mathieu, and G. Meco

Copyright © 2012 Takeo Kato et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The causal gene(s) for familial adult myoclonic epilepsy (FAME) remains undetermined. To identify it, an exome analysis was performed for the proband in a Japanese FAME family. Of the 383 missense/nonsense variants examined, only c.5720G>A mutation (p.Arg1907His) in the UBR5 gene was found in all of the affected individuals in the family, but not in the nonaffected members. Such mutation was not found in any of the 85 healthy individuals in the same community nor in any of the 24 individuals of various ethnicities. The present study demonstrated an FAME-associated mutation in the UBR5 gene, which is located close to the reported locus linked to Japanese FAME families.