全面发育迟缓1例患儿 EEF1A2基因的变异分析

Analysis of EEF1A2 gene variant in a child with Global developmental delay

目的总结EEF1A2变异所致常染色体显性复杂神经发育障碍患儿的临床表现并分析其致病机制。方法以2021年7月就诊于洛阳市妇幼保健院的1例全面发育迟缓患儿作为研究对象。回顾分析患儿的临床资料,对其进行全外显子组检测,并复习相关文献。本研究通过了洛阳市妇幼保健院医学遗传与产前诊断医学伦理委员会的审查(批准号:YCCZ-KS-KY-2021-03)。结果患儿为女性,2岁4个月,表现为全面发育迟缓、步态不稳、四肢肌力偏低、无语言发育。其父母身体健康,否认相关家族遗传病史。基因检测发现患儿携带EEF1A2基因(NM_001958.5)c.44A>G(p.H15R)新发杂合错义变异,既往未见报道,根据美国医学遗传学与基因组学学会相关指南判定为可能致病性。结论EEF1A2基因c.44A>G(p.H15R)变异可能是患儿的遗传学病因。上述发现丰富了EEF1A2基因的变异谱。

ObjectiveTo summarize the clinical manifestations of Autosomal dominant complex neurodevelopmental disorders due to variants of EEF1A2 gene and explore their pathogenic mechanisms.MethodsA child who had visited Luoyang Maternal and Child Health Care Hospital in July 2021 for global developmental delay was selected as the study subject.Clinical data of the child was reviewed.The child was subjected to whole exome sequencing,and relevant literature was reviewed.This study has been approved by the Medical Ethics Committee of Luoyang Maternal and Child Health Care Hospital(No.YCCZ-KS-KY-2021-03).ResultsThe patient,a 2-year-and-4-month-old girl,had presented with global developmental delay,gait instability,low limb muscle strength,and absence language development.Her parents were both healthy and denied relevant family history.Genetic testing revealed that she has harbored a de novo heterozygous c.44A>G(p.H15R)missense variant of the EEF1A2 gene(NM_001958.5),which was unreported previously.Based on the guidelines from the American College of Medical Genetics and Genomics,the variant was rated as pathogenic.ConclusionThe c.44A>G(p.H15R)variant of the EEF1A2 gene probably underlay the pathogenesis in this patient.Above finding has also enriched the mutational spectrum of the EEF1A2 gene.