A novel splicing variant in MICAL-1 gene is associated with epilepsy

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2024-05-03 DOI:10.1016/j.ejmg.2024.104946
Haiyan Yang , Hongmei Liao , Siyi Gan , Ting Xiao , Liwen Wu
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Abstract

Germline MICAL1 defects have been rarely reported in patients with epilepsy and the genotype-phenotype association remains unclear. In this study, the patient was a 4.6 years old girl who presented with onset of recurrent focal seizures with onset at age 3.4 years. EEG showed abnormal δ-wave activity in the right central and middle temporal lobe. Trio WES showed a novel heterozygous variant c.-43-1G > A in the MICAL1 gene in the patient and her normal mother. Minigene verified two abnormal transcripts due to the mutation, which was predicted to interrupt 5′UTR structures of MICAL1. The patient was clinically diagnosed with benign childhood epilepsy with centrotemporal spike (BECTS). As far as we know, this is the first BECTS case with documented MICAL1 mutation. Novel MICAL1 variant c.-43-1G > A putatively interrupted MICAL1 translation by changing 5′UTR structures and, however, further functioning study is needed.

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MICAL-1 基因的一种新型剪接变异与癫痫有关
在癫痫患者中很少有MICAL1基因缺陷的报道,其基因型与表型之间的关系仍不清楚。在本研究中,患者是一名 4.6 岁的女孩,在 3.4 岁时出现反复局灶性癫痫发作。脑电图显示右侧中央和中颞叶有异常的δ波活动。三重 WES 显示,患者及其正常母亲的 MICAL1 基因中存在一个新的杂合变异 c.-43-1G > A。迷你基因(Minigene)验证了该变异导致的两个异常转录本,并预测该变异会打断 MICAL1 的 5′UTR 结构。患者被临床诊断为 "良性儿童癫痫伴颞叶中心棘波(BECTS)"。据我们所知,这是第一例有 MICAL1 基因突变记录的 BECTS 病例。新的MICAL1变异c.-43-1G > A可能通过改变5′UTR结构中断了MICAL1的翻译,但还需要进一步的功能研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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