SMC1A基因c.2923C>T突变致反复癫痫发作的德朗热综合征1例并文献复习  

Cornelia de Lange syndrome with recurrent seizures and SMC1A gene c. 2923C > T mutation: a case report and literature review

作　　者：张芳敏[1] 韩子明[1] 王晓月 赵德安[1] 韩玫瑰[1] 黄倩[1] 朱小娟 刘佩佩 王凌超 Zhang Fangmin;Han Ziming;Wang Xiaoyue;Zhao Dean;Han Meigui;Huang Qian;Zhu Xiaojuan;Liu Peipei;Wang Lingchao(Department of Pediatrics,the First Affiliated Hospital of Xinxiang Medical University,Weihui 453100,China;Department of Pediatrics,the First Affiliated Hospital of Henan University,Kaifeng 475000,China)

机构地区：[1]新乡医学院第一附属医院儿科,卫辉453100 [2]河南大学第一附属医院儿科,开封475000

出　　处：《中华实用儿科临床杂志》2022年第2期143-145,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：河南省卫生科技创新型人才工程专项经费资助(4165);河南省医学科技攻关计划(联合共建)项目(LHGJ20190443)。

摘　　要：目的探讨德朗热综合征(CdLs)的特点、临床表现及基因突变类型,提高临床医师对该病的认识。方法回顾性分析新乡医学院第一附属医院2019年8月确诊的1例CdLs患儿的临床资料及其基因检测结果。结果患儿,女,2岁8个月,外貌特殊,鼻梁低平,眼距增宽,招风耳,嘴角下斜,腭弓高,小颌畸形,反复癫痫发作,言语及智力发育落后,基因检测结果示SMC1A基因c.2923C>T突变,诊断CdLs 2型。结论CdLs属于较为罕见的遗传代谢病,临床表现常有特殊的面容及体征。SMC1A基因突变在国内仅有1例报道,而SMC1A基因c.2923C>T突变在国内外均未见报道,扩大了SMC1A基因变异谱。Objective To explore the characteristics,clinical manifestations and gene mutation types of Cornelia de Lange syndrome(CdLs),and to improve the understanding of the disease.Methods Clinical data and gene test results of a pediatric case of CdLs diagnosed in the First Affiliated Hospital of Xinxiang Medical University in August 2019 were analyzed retrospectively.Results A female patient with 2 years and 8 months old presented a special appearance with a low and flat nose,a wide eye distance,audition ears,a downward inclination of the mouth corner,a high arch of the jaw and a small jaw deformity,who had recurrent seizures,speech and mental retardation.The result of gene test showed the mutation of SMC1A gene c.2923C>T,and thus the patient was diagnosed as type 2 CdLs.Conclusions CdLs is a rare genetic metabolic disease with special facial features and physical signs.There is only one case of CdLs with gene mutation of SMC1A in China through literature review.The mutation of SMC1A gene c.2923C>T in CdLs cases has not been reported at home and abroad,which expands the variation spectrum of the SMC1A gene.

关 键 词：德朗热综合征 癫痫发作 SMC1A基因突变 

分 类 号：R725.9[医药卫生—儿科]