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.
作者
岳艳
刘亚青
王文杰
王天成
YUE Yan;LIU Yaqing;WANG Wen-jie;WANG Tiancheng(Department of Neurology,the Second Hospital of Lanzhou University,Lanzhou 730000,China)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
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)。
关键词
RORB基因
癫痫发作
智力障碍
高通量测序
RORB gene
Seizure
Intellectual disability
High throughput sequencing
