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

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...

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Autores principales: Kato, Takeo, Tamiya, Gen, Koyama, Shingo, Nakamura, Tomohiro, Makino, Satoshi, Arawaka, Shigeki, Kawanami, Toru, Tooyama, Ikuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scholarly Research Network 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458293/
https://www.ncbi.nlm.nih.gov/pubmed/23029623
http://dx.doi.org/10.5402/2012/508308
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author Kato, Takeo
Tamiya, Gen
Koyama, Shingo
Nakamura, Tomohiro
Makino, Satoshi
Arawaka, Shigeki
Kawanami, Toru
Tooyama, Ikuo
author_facet Kato, Takeo
Tamiya, Gen
Koyama, Shingo
Nakamura, Tomohiro
Makino, Satoshi
Arawaka, Shigeki
Kawanami, Toru
Tooyama, Ikuo
author_sort Kato, Takeo
collection PubMed
description 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.
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spelling pubmed-34582932012-10-01 UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family Kato, Takeo Tamiya, Gen Koyama, Shingo Nakamura, Tomohiro Makino, Satoshi Arawaka, Shigeki Kawanami, Toru Tooyama, Ikuo ISRN Neurol Research Article 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. International Scholarly Research Network 2012-09-17 /pmc/articles/PMC3458293/ /pubmed/23029623 http://dx.doi.org/10.5402/2012/508308 Text en Copyright © 2012 Takeo Kato et al. https://creativecommons.org/licenses/by/3.0/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.
spellingShingle Research Article
Kato, Takeo
Tamiya, Gen
Koyama, Shingo
Nakamura, Tomohiro
Makino, Satoshi
Arawaka, Shigeki
Kawanami, Toru
Tooyama, Ikuo
UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title_full UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title_fullStr UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title_full_unstemmed UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title_short UBR5 Gene Mutation Is Associated with Familial Adult Myoclonic Epilepsy in a Japanese Family
title_sort ubr5 gene mutation is associated with familial adult myoclonic epilepsy in a japanese family
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458293/
https://www.ncbi.nlm.nih.gov/pubmed/23029623
http://dx.doi.org/10.5402/2012/508308
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