{"title":"[由 EEF1A2 基因突变引起的发育性和癫痫性脑病 33:病例报告]。","authors":"Hai-Lan He, Xue-Qin Lin, Xiao-Le Wang, Pan Peng, Hui Xiao, Fei Yin, Jing Peng","doi":"10.7499/j.issn.1008-8830.2404013","DOIUrl":null,"url":null,"abstract":"<p><p>A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a <i>de novo</i> heterozygous missense mutation of c.364G>A(p.E122K) in the <i>EEF1A2</i> gene, and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the <i>EEF1A2</i> gene mutation. This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy, genetic testing for <i>EEF1A2</i> gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"26 8","pages":"861-864"},"PeriodicalIF":0.0000,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334538/pdf/","citationCount":"0","resultStr":"{\"title\":\"[Developmental and epileptic encephalopathy 33 caused by <i>EEF1A2</i> gene mutation: a case report].\",\"authors\":\"Hai-Lan He, Xue-Qin Lin, Xiao-Le Wang, Pan Peng, Hui Xiao, Fei Yin, Jing Peng\",\"doi\":\"10.7499/j.issn.1008-8830.2404013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a <i>de novo</i> heterozygous missense mutation of c.364G>A(p.E122K) in the <i>EEF1A2</i> gene, and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the <i>EEF1A2</i> gene mutation. This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy, genetic testing for <i>EEF1A2</i> gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.</p>\",\"PeriodicalId\":39792,\"journal\":{\"name\":\"中国当代儿科杂志\",\"volume\":\"26 8\",\"pages\":\"861-864\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-08-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11334538/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国当代儿科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7499/j.issn.1008-8830.2404013\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国当代儿科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7499/j.issn.1008-8830.2404013","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].
A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a de novo heterozygous missense mutation of c.364G>A(p.E122K) in the EEF1A2 gene, and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the EEF1A2 gene mutation. This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy, genetic testing for EEF1A2 gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.
IF 3.4 4区 生物学ProteomicsPub Date : 2019-12-02DOI: 10.1002/pmic.201970201
Fei-Long Yu, Huan Miao, Jinjin Xia, Fan Jia, Huadong Wang, Fuqiang Xu, Lin Guo
来源期刊
中国当代儿科杂志Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍:
The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.