A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
Article first published online: 29 AUG 2002
Copyright © 2002 Wiley-Liss, Inc.
Annals of Neurology
Volume 52, Issue 5, pages 654–657, November 2002
How to Cite
Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T. and Ptác̆ek, L. J. (2002), A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol., 52: 654–657. doi: 10.1002/ana.10347
- Issue published online: 24 OCT 2002
- Article first published online: 29 AUG 2002
- Manuscript Accepted: 21 JUN 2002
- Manuscript Received: 26 MAR 2002
- Ministry of Education, Culture, Sports, Science and Technology of Japan. Grant Numbers: 12204001, 12670727
- NIH. Grant Number: NS38616
- JSPS fellows
- Japan Epilepsy Research Foundation
A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significant evidence of linkage to febrile seizures (FEB4). We screened for MASS1 mutations in individuals from 48 families with familial febrile seizures and found 25 DNA alterations. None of nine missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X) causing a deletion of the C-terminal 126 amino acid residues was identified in one family with febrile and afebrile seizures. Our results suggest that a loss-of-function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS1 contributed to the cause of febrile seizures in most of our families.