Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood

Murat Erdoğan; Hakan Gümüş; Didem Behice Öztop; Burhan Balta; Keziban Korkmaz Bayram; Munis Dündar

doi:10.7197/cmj.1121531

EN

Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood

Abstract

Cyclin-dependent kinase-like 5 (CDKL5, OMIM 300203), also known as STK9 (serine/threonine kinase 9), is a gene that is thought to play a role in the production of proteins involved in the normal development of the brain, although its function is not known exactly. It is located in the p22.13 region of X chromosome. Some of the mutations reported in this gene have been found to be associated with epilepsy characterized with progressive seizures, non-epileptic autism and mild epilepsy phenotypes in infancy and early childhood despite treatment with at least two antiepileptic drugs (AED). In this study, we evaluated the relationship between c.119C>T (A40V) rs122460159, c.215T>A/C (I72N, I72T) rs62641235, c.455G>T (C152P) rs122460157, c.525A>T (R175S) rs61749700, c.533G>A (G178D) rs267606715, c.539C>T (P180L) rs61749704, c.1330C>T (R444C) rs561753977 and c.2635_2636delCT (L879E) rs61753251 polymorphisms in CDKL5 gene (NM_001323289) and intractable seizures and autism disorder. DNA extraction was performed after blood samples were collected. Identified mutations were analysed with Real-Time PCR method. The results obtained from the patient and control groups were compared. It was found that one female patient in the intractable seizure patient group carried the CDKL5 gene c.525 A>T p.(R175S) mutation, while one female patient in the intractable seizure patient group carried the c.539 C>T p.(P180L) mutation. It is thought that CDKL5 gene mutation research will be useful in the diagnosis of aetiology in new-borns that have intractable epilepsy despite AED treatment. The fact that CDKL5 mutant patients have autistic findings shows that this gene is among candidate genes for ASD, although no mutation was found in this patient group in our study.

Keywords

References

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Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Research Article

Authors

Murat Erdoğan ^*
0000-0001-8768-4457
Türkiye

Hakan Gümüş
0000-0001-5896-074X
Türkiye

Didem Behice Öztop
0000-0003-3189-2112
Türkiye

Burhan Balta
0000-0003-2672-2493
Türkiye

Keziban Korkmaz Bayram
0000-0002-1228-1298
Türkiye

Munis Dündar
0000-0003-0969-4611
Türkiye

Publication Date

June 30, 2022

Submission Date

May 29, 2022

Acceptance Date

June 18, 2022

Published in Issue

Year 2022 Volume: 44 Number: 2

DOI

https://doi.org/10.7197/cmj.1121531

IZ

https://izlik.org/JA59TM56LH

Cite

RIS / Bibtex

AMA

1.Erdoğan M, Gümüş H, Öztop DB, Balta B, Korkmaz Bayram K, Dündar M. Investigation of CDKL5 Gene Mutations in Autistic Patients Accompanied with Intractable Seizures, Autistic Disorder and Seizure in Infancy and Early Childhood. CMJ. 2022;44(2):165-171. doi:10.7197/cmj.1121531