HNRNPU基因杂合突变致发育性和癫痫性脑病54型1例报道
HNRNPU gene heterozygous mutation leading to developmental and epileptic encephalopathy 54:One case report
赵珊 1张晨月 2严晓晗 1唐羽帆 2李淇 1潘亚珍 1李志勇3
作者信息
- 1. 潍坊医学院附属医院/山东第二医科大学临床医学院,山东潍坊 261000
- 2. 潍坊市人民医院,山东潍坊 261000
- 3. 潍坊市妇幼保健院,山东潍坊 261000
- 折叠
摘要
目的 探讨HNRNPU基因突变所致发育性和癫痫性脑病54型(DEE54)患儿的临床特征和遗传学特点.方法 回顾性分析潍坊医学院附属医院2023年6月收治的一例HNRNPU基因突变患儿的临床资料,并进行相关文献复习.结果 本例患儿,男,1岁3个月,于7月龄发热后癫痫发作起病,主要临床特征为智力障碍、癫痫发作、全面发育迟缓、颅面畸形、肌张力低下,癫痫发作类型为全面性强直发作.基因检测提示携带HNRNPU基因c.1305_1308del位点杂合变异,根据ACMG指南,建议将该变异评为致病.患儿确诊为DEE54.结论 报道了 1例HNRNPU基因c.1305_1308del位点变异导致的DEE54患儿,考虑癫痫伴全面发育迟缓、智力障碍的患儿应及早完善基因检测精准诊断.
Abstract
Objective To explore the clinical characteristics and genetic characteristics of the children with develop-mental and epileptic encephalopathy 54 caused by HNRNPU gene mutation.Methods The clinical data of a child with HNRNPU gene mutation admitted to the Affiliated Hospital of Weifang Medical College in June 2023 were retrospectively analyzed,and the relevant literature was reviewed.Results The child in this case,male,1 year and 3 months,had seizure onset after fever at 7 months of age.The main clinical features were intellectual disabilities,seizures,global developmental delay,craniofacial malformation,hypotonia,and the seizure type was generalized tonic attack.Genetic testing suggested carrying a heterozygous variant at the c.1305_1308del site of the HNRNPU gene,which was suggested to be classified as pathogenic according to the ACMG guidelines.The child was diagnosed as having both developmental and epileptic encephalopathy 54.Conclusion We reported a case of DEE54 caused by c.1305_1 308del locus variation in HNRNPU gene.Children with epilepsy with global developmental delay and intellectual disability should be diagnosed with genetic testing as soon as possible.
关键词
HNRNPU基因/发育性和癫痫性脑病54型/全面发育迟缓/颅面畸形/智力障碍Key words
HNRNPU gene/developmental and epileptic encephalopathy 54/global developmental delay/craniofa-cial malformation/intellectual disability引用本文复制引用
出版年
2024
NETL
NSTL
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