RORB基因突变引起癫痫发作、智力障碍1例  

A case of RORB gene mutation causing seizure and intellectual disability

作　　者：岳艳 刘亚青[2] 王文杰 王天成[2] YUE Yan;LIU Yaqing;WANG Wen-jie;WANG Tiancheng(Department of Neurology,the Second Hospital of Lanzhou University,Lanzhou 730000,China)

机构地区：[1]兰州大学第二临床医学院,兰州730000 [2]兰州大学第二医院神经内科

出　　处：《中国神经精神疾病杂志》2023年第3期160-163,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：萃英科技创新项目(NO:CY2019-MS13)。

摘　　要：对2020年12月在本院住院治疗的1例RORB基因杂合变异患儿进行回顾性分析。患儿,男,11岁,因“发作性动作停止伴意识模糊4年余,频发1月”入院。患儿7岁时起病,伴有智力发育落后,11岁时因自行停药后发作频率增加,且伴有全身强直阵挛发作。高通量测序示患儿RORB基因第3外显子存在c.196C>T(p.R66*)杂合变异。RORB基因变异罕见,该变异与癫痫发作相关,目前尚缺乏针对该变异特效治疗药物。We retrospectively analyzed a child with heterozygous variation of RORB gene who was hospitalized in our Hospital in December 2020.The boy was admitted to the hospital at the age of 11 because of"Paroxysmal suspension of movement with confusion for more than 4 years,frequent for 1 month".The disease began when the child was 7 years old,accompanied by intellectual disability.The frequency of seizures increased due to self-discontinuation of the medication and accompanied by generalized tonic-clonic seizures during the age of 11.High throughput sequencing showed a heterozygous mutation of exon 3:[c.196C>T(p.R66*)]of the RORB gene.RORB gene variation is rare,which is associated with seizures.At present,there is a lack of specific therapeutic medications for RORB gene mutation.

关 键 词：RORB基因 癫痫发作 智力障碍 高通量测序 

分 类 号：R742[医药卫生—神经病学与精神病学]