Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical sciences, Tehran, Iran.
Department of Pediatrics, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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.
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.
The present report highlights the importance of CDKL5 mutation analysis in male patients affected with early onset refractory epilepsy.