Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy
Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy
复制标题
RELN基因杂合错义突变是癫痫的病因之一
DOI：
10.1080/01616412.2021.1979748
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发表时间：
2021-09
影响因子：
1.9
通讯作者：
Xue-Wu Liu
中科院分区：
文献类型：
--
作者：
Xi-Qin Fang;Ran-Ran Zhang;Xue-Wu Liu
摘要目的遗传因素在癫痫的发病中起着重要作用，最近发现了与癫痫相关的基因--本文报道了一个有癫痫病史的家系，该家系是由一个CINN基因的杂合错义突变引起的。方法对有癫痫家族史的先证者进行明确诊断后，对先证者及其家人进行基因测序。结果先证者为男性，19岁，在睡眠中出现全身性惊厥，持续约1 min，后自行缓解。他的父亲和祖母也经历了癫痫发作。先证者及其母亲、祖母的基因测序结果显示，先证者及其祖母均携带有相同的c7909 C > T杂合错义突变，与先证者母亲不同。讨论BLODN基因突变可导致良性癫痫的发生，尽管它可能引起的癫痫发作的具体类型尚不清楚，并可能增加癫痫的易感性。此外，它可能具有潜在的抗癌作用。
ABSTRACT Objectives Genetic factors play an important role in the onset of epilepsy, and the involvement of the RELN gene was recently discovered. This paper reports a family with a history of epilepsy caused by a heterozygous missense mutation in the RELN gene. Methods After a clear diagnosis was made in the proband with a family history of epilepsy, gene sequencing was performed on the proband and his family members. Results The proband was a 19-year-old male who presented with general convulsions during sleep lasting for about 1 min and was relieved spontaneously. His father and grandmother also experienced seizures. The gene sequencing results of the proband, his mother, and his grandmother showed that both the proband and his grandmother carried the same heterozygous missense mutation in the RELN gene (c.7909 C > T), unlike the proband’s mother. Discussion Mutations in the RELN gene can lead to the occurrence of benign epilepsy, though the specific type of seizures that it can cause is still unclear, and may increase the susceptibility to epilepsy. In addition, it may have potential anticancer effects.
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