CNPY3基因变异致发育性癫痫性脑病1例报道并文献复习  

Developmental and epileptic encephalopathy caused by CNPY3 gene variants:a case report and literature review

作　　者：张晓莉[1] 张晨宇 王俊玲 王梦月 李小丽[1] 贾天明[1] ZHANG Xiaoli;ZHANG Chenyu;WANG Junling;WANG Mengyue;LI Xiaoli;JIA Tianming(Department of Pediatrics,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第三附属医院儿内科,河南郑州450052

出　　处：《中国优生与遗传杂志》2023年第5期1018-1022,共5页Chinese Journal of Birth Health & Heredity

基　　金：河南省医学科技攻关计划项目(LHGJ20200439)。

摘　　要：目的 探讨CNPY3基因变异所致发育性癫痫性脑病60型患儿的临床特征和遗传学特点。方法 回顾性分析郑州大学第三附属医院2022年3月收治的1例CNPY3基因变异患儿的临床资料,并进行相关文献复习。结果 本例患儿,女,于2月龄以癫痫发作起病,主要临床特征为难治性癫痫、全面发育迟缓、反复肺炎,存在多种癫痫发作类型:痉挛发作、痉挛-强直发作、局灶性发作。基因检测提示存在CNPY3(NM_006586.5)复合杂合变异c.372+2T>C和c.734_737del/p.Gln245Argfs*42,分别遗传自父亲和母亲,其中c.372+2T>C变异未见报道。文献检索有临床资料报道共4例,国内尚未见报道,结合本研究共5例,女4例、男1例(13月龄死亡),起病年龄1~4月龄,随访年龄分别为10月龄、28月龄、12岁、14岁、13月龄。5例均为难治性癫痫,发作类型有痉挛发作(5/5)、肌阵挛发作(3/5)、局灶性发作(2/5)、强直发作(2/5)等;其他症状包括全面发育迟缓、脑萎缩、痉挛性截瘫、胃食管返流等,个别存在外观畸形。结论 CNPY3基因变异引起的发育性癫痫性脑病60型,起病年龄早,痉挛发作最常见,伴有全面发育迟缓,预后不良。本研究为国内首例报道,丰富了CNPY3基因变异的表型谱和基因变异谱。Objective To explore the clinical and genetic characteristics of developmental and epileptic encephalopathy with CNPY3 gene variants.Methods The clinical data of a case of developmental and epileptic encephalopathy with CNPY3 gene variants admitted in the Third Affiliated Hospital of Zhengzhou University in March 2022 were retrospectively analyzed and related literatures were reviewed.Results Our case is a female child with epilepsy at the age of 2 months.The main clinical features are intractable epilepsy,global developmental delay,and recurrent pneumonia.There are multiple seizure types:Epileptic spasms,spasm-tonic seizures,and focal seizures.WES revealed compound heterozygous variants in CNPY3 c.372+2T>C and c.734_737del/p.Gln245Argfs*42 in the patient,respectively inherited from her father and mother,of which the variant c.372+2T>C was not reported.There were another 4 cases of clinical data with CNPY3 gene variation reported in English articles and none in Chinese article.Among the 5 cases,there were 4 females and 1 male(death at 13 months).The onset ages of epilepsy were 1-4 months,and the follow-up ages were 10 months,28 months,12 years,14 years and 13 months,respectively.All 5 cases were intractable epilepsy,the seizure types included epileptic spasms(5/5),myoclonus seizure(3/5),focal seizure(2/5),and tonic seizure(2/5).Other symptoms included global developmental delay,brain atrophy,spastic paraplegia,gastroesophageal reflux,and occasionally appearance malformations.Conclusion The clinical phenotypes of patients with developmental and epileptic encephalopathy 60 caused by CNPY3 gene variation are characterized by early-onset age,the most common epileptic spasms,accompanied by global developmental delay,and the poor prognosis.This case is first reported in China,which enriches the phenotype and variation spectrum of CNPY3 gene.

关 键 词：CNPY3基因 发育性癫痫性脑病 癫痫 痉挛发作 

分 类 号：R742.1[医药卫生—神经病学与精神病学]