ADGRV1基因突变致常染色体不完全显性遗传癫痫1例并文献复习

AUTOSOMAL INCOMPLETE DOMINANT MYOCLONIC EPILEPSY CAUSED BY ADGRV1 MUTATION:A CASE REPORT AND LITERATURE REVIEW

目的探讨黏附类G蛋白耦联受体V1(ADGRV1)基因在癫痫发病中的作用及遗传方式。方法收集1例14岁癫痫男性患者的临床资料,通过全外显子测序,对该例患者及其亲属的基因突变进行检测。并检索HGMD数据库中收录的所有ADGRV1基因突变患者的临床资料并进行分析。结果该患者基因测序结果显示携带ADGRV1基因突变,而其父母和弟弟均未发现该突变,结合其临床表现,诊断为肌阵挛性癫痫,给予丙戊酸和左乙拉西坦联合治疗后癫痫发作控制良好。对HGMD数据库中患者的信息进行分析显示,ADGRV1基因纯合突变时最常表现为Usher综合征。19例ADGRV1基因突变的癫痫患者的突变类型全部为杂合突变,其中17例患者为杂合错义突变,且10例表现为肌阵挛发作的患者突变类型全部为杂合错义突变。结论ADGRV1基因在癫痫的致病过程中遵循类似于常染色体不完全显性遗传规律,其杂合错义突变与癫痫的发病(尤其是肌阵挛性癫痫发作)密切相关。

Objective To explore the role of adhesion G protein-coupled receptor V1(ADGRV1)gene in the pathogenesis of epilepsy and its inheritance pattern.Methods The clinical data of a 14-year-old male patient with epilepsy were collected retrospectively,and whole-exome sequencing was performed to detect the gene mutation of the patient and his family.The clinical data of all patients with ADGRV1 mutations included in the HGMD database were collected and analyzed.Results The gene sequencing showed that the patient had a mutation in the ADGRV1 gene,but it was not found in his parents and younger brother.The patient was diagnosed with myoclonus epilepsy based on the gene sequencing result and clinical manifestations.His seizures were well controlled after treatment with a combination of valproic acid and levetiracetam.The analysis of the clinical data of patients in the HGMD database showed that the homozygous mutation in the ADGRV1 gene mostly manifested as Usher syndrome.The 19 epilepsy patients with ADGRV1 mutations all had heterozygous mutations;17 of them had heterozygous missense mutations,and all the 10 patients with myoclonic seizures had heterozygous missense mutations.Conclusion The ADGRV1 gene follows a pattern similar to autosomal incomplete dominant inheritance in the pathogenesis of epilepsy,and its heterozygous missense mutation is closely related to the onset of epilepsy(especially myoclonic seizures).