A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

Ghafouri-Fard, Soudeh and Salehpour, Shadab and Yassaee, Vahidreza and Miryounesi, Mohammad (2016) A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report. International Journal of Pediatrics, 4 (2). pp. 1315-1318.

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Abstract

Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Iranian population. He has been affected by early onset epileptic refractory seizures and developmental delay. Whole-exome sequencing (WES) has revealed a base substitution c.173T>A in CDKL5 gene, resulting in the formation of stop codon p.L58X. This mutation resides in the catalytic domain of the corresponding protein and is expected to result in premature RNA break down with no CDKL5 resulting protein. Conclusion The present report highlights the importance of CDKL5 mutation analysis in male patients affected with early onset refractory epilepsy.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 28 Sep 2017 12:28
Last Modified: 28 Sep 2017 12:28
URI: http://eprints.mums.ac.ir/id/eprint/6051

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