How to Cite this Article: Giordano L, Sartori S, Russo S, Accorsi P,Galli J. ,Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD. 2010. Familial Ohtahara syndrome due to a novel ARX gene mutation. Am J Med Genet Part A 152A: 3133–3137.
Familial Ohtahara syndrome due to a novel ARX gene mutation†
Version of Record online: 24 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3133–3137, December 2010
How to Cite
Giordano, L., Sartori, S., Russo, S., Accorsi, P., Galli, J., Tiberti, A., Bettella, E., Marchi, M., Vignoli, A., Darra, F., Murgia, A. and Bernardina, B. D. (2010), Familial Ohtahara syndrome due to a novel ARX gene mutation. Am. J. Med. Genet., 152A: 3133–3137. doi: 10.1002/ajmg.a.33701
- Issue online: 24 NOV 2010
- Version of Record online: 24 NOV 2010
- Manuscript Accepted: 14 JUL 2010
- Manuscript Received: 19 AUG 2009
- ARX gene;
- neonatal seizure;
- infantile spasms;
- gene expression studies
Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West syndrome phenotype and epileptic encephalopathy. In both children, we have found a previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) resulting in the substitution of a leucine with a glutamine in the aminoacid sequence. The two mothers and the maternal grandmother carry the same mutation which segregates with the disease phenotype in the family. This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations. © 2010 Wiley-Liss, Inc.