EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.

Autor: Aslan-Kara K; Department of Neurology, School of Medicine, Çukurova University Faculty of Medicine, Sarıçam-Adana 01330, Türkiye. Electronic address: kezbanaslan@hotmail.com., Dündar-Yenilmez E; Department of Medical Biochemistry, Çukurova University Faculty of Medicine, Türkiye., Ateş E; Department of Neurology, School of Medicine, Çukurova University Faculty of Medicine, Sarıçam-Adana 01330, Türkiye., Alparslan MM; Department of Medical Biochemistry, Biruni University Faculty of Medicine, Türkiye., Peköz T; Department of Neurology, School of Medicine, Çukurova University Faculty of Medicine, Sarıçam-Adana 01330, Türkiye., Bozdemir H; Department of Neurology, School of Medicine, Çukurova University Faculty of Medicine, Sarıçam-Adana 01330, Türkiye., Tuli A; Department of Medical Biochemistry, Çukurova University Faculty of Medicine, Türkiye.
Jazyk: angličtina
Zdroj: Seizure [Seizure] 2024 Jan; Vol. 114, pp. 79-83. Date of Electronic Publication: 2023 Dec 03.
DOI: 10.1016/j.seizure.2023.12.002
Abstrakt: Objectives: Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort study aimed to examine the frequency of EFHC1 gene variants in Turkish JME patients and a healthy control group and evaluate the association between these mutations and disease risk.
Methods: We screened 72 JME patients with a mean age of 31.8 ± 9.9 (20-65) years and 35 controls with a mean age of 29.1 ± 7.6 (17-50) years from southern Turkey using direct sequencing analyses.
Results: EFCH1 single nucleotide variants were detected in 24 of 72 JME patients and 3 of 35 controls. The most common mutations were R182H in JME patients (p = 0.010) and 3'UTR in the control group (p < 0.001). The R182H mutation is a common variant in JME (95 % CI: 1.232-76.580, p = 0.031) and the 3'UTR mutation may be associated with lower risk of JME in the Turkish population (95 % CI: 13.89-166.67, p < 0.001).
Significance: Our results indicate that EFHC1 gene variants carry a risk for JME and the 3'UTR variant may have a protective role against JME in the Turkish population. Screening for other genes is needed to further clarify the genetic inheritance of JME in Turkish patients.
Competing Interests: Declaration of Competing Interest None of the authors have any conflict of interest to disclose as it regards to this manuscript.
(Copyright © 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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