摘要
报道1例2021年6月河南中医药大学第一附属医院儿科收治的Dentici-Novelli神经发育综合征患儿的临床特征及ZNF526基因突变特点,并进行文献复习。患儿,男,5岁1个月,存在特殊外貌、智力障碍、运动和语言发育迟缓、背部和臀部皮肤散在蒙古斑、脑组织受累、视力障碍和癫痫发作等临床表现。家系全外显子测序检测发现患儿携带ZNF526基因的c.1430G>T、c.475C>T复合杂合变异。目前国内外已报道7个ZNF526基因变异位点与神经发育障碍相关,本例患儿2个变异未见文献报道,扩展了该疾病的表型谱和变异谱。
This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome,who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021,and reviews the relevant literature.The male child,5 years and 1 month old,presented with distinctive facial features,intellectual and motor retardation,language development delays,scattered Mongolian spots on the back and buttocks,brain tissue involvement,visual impairment,and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations,c.1430G>T and c.475C>T,in the ZNF526 gene.At present,7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders,and the 2 mutations in this case have not been reported in the literature,broadening the phenotype and mutation spectrum of this disease.
作者
张甜甜
都修波
朱连超
李华伟
郑宏
马丙祥
杜希龙
李泰松
Zhang Tiantian;Du Xiubo;Zhu Lianchao;Li Huawei;Zheng Hong;Ma Bingxiang;Du Xilong;Li Taisong(Pediatric Hospital,the First Affiliated Hospital of Henan University of Traditional Chinese Medicine,Zhengzhou 450000,China;College of Pediatrics,Henan University of Traditional Chinese Medicine,Zhengzhou 450046,China;Chigene(Beijing)Translational Medical Research Center Co.,Ltd.,Beijing 100035,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2024年第8期613-616,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
河南省科技攻关计划项目(212102311141)
河南省中医药科学研究专项课题(2019ZY2134)
河南省特色骨干学科中医学第一批学科建设项目(5STG-ZYX07-2021511)。
