Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, 17020, Canakkale, Turkey.
Clin Neurol Neurosurg. 2021 Mar;202:106487. doi: 10.1016/j.clineuro.2021.106487. Epub 2021 Jan 11.
Epilepsy is a chronic brain disease and is estimated to affect more than 50 million people worldwide.Epilepsy is a polygenic and multifactorial disease.Genetic causes play a major role in 40-60 % of all epilepsies.Copy number variations(CNVs) have been reported in approximately 5-12 % of patients with different types of epilepsy.Here we aimed to determine the diagnostic yield of the aCGH in epilepsy and to reveal new candidate genes and CNVs by analyzing aCGH data retrospectively.
The clinical data of 80 patients with the diagnosis of epilepsy were examined retrospectively and the raw data of aCGH of these patients were reanalyzed in the light of current literature.
Pathogenic/likely pathogenic CNVs were detected in 14 of 80 patients and 12 of these CNVs (15 %) were associated with epilepsy phenotype. In addition, 18 CNVs in 16 different chromosomal loci that were evaluated as the variant of unknown clinical significance(VOUS). In four cases (5%), CNVs associated with epilepsy were less than 100 kb and these accounted for 13.3 % of all epilepsy associated CNVs.
The diagnostic yield of aCGH in epilepsy patients was found to be higher than most studies in the literature. MACROD2,ADGRB3(BAI3),SOX8,HIP1,PARK2 and TAFA2 genes were evaluated as potential epilepsy-related genes and NEDD9,RASAL2 and TNR genes thought to be the candidate genes for epilepsy. Our study showed that the diagnostic efficiency of aCGH in epilepsy is high and with more comprehensive studies, it will contribute to the elucidation of genes involved in genetic etiology in epilepsy patients.
癫痫是一种慢性脑部疾病，据估计，全球有超过 5000 万人受其影响。癫痫是一种多基因、多因素疾病，遗传因素在所有癫痫中占 40-60%。约 5-12%的不同类型癫痫患者存在拷贝数变异(CNVs)。本研究旨在通过分析 aCGH 数据，确定 aCGH 在癫痫诊断中的应用价值，并发现新的候选基因和 CNVs。
回顾性分析 80 例癫痫患者的临床资料，并根据现有文献重新分析这些患者的 aCGH 原始数据。
在 80 例患者中，发现 14 例存在致病性/可能致病性 CNVs，其中 12 例(15%)与癫痫表型相关。此外，在 16 个不同染色体位点评估的 18 个 CNVs 被认为是意义不明的变异(VOUS)。在 4 例患者中(5%)，与癫痫相关的 CNVs 小于 100kb，占所有癫痫相关 CNVs 的 13.3%。
与文献中的大多数研究相比，aCGH 在癫痫患者中的诊断率更高。MACROD2、ADGRB3(BAI3)、SOX8、HIP1、PARK2 和 TAFA2 基因被评估为潜在的癫痫相关基因，NEDD9、RASAL2 和 TNR 基因被认为是癫痫的候选基因。我们的研究表明，aCGH 在癫痫中的诊断效率较高，通过更全面的研究，将有助于阐明癫痫患者遗传病因中的相关基因。
