Analysis of EEF1A2 gene variant in a child with Global developmental delay
10.3760/cma.j.cn511374-20211001-00795
- VernacularTitle:全面发育迟缓1例患儿 EEF1A2基因的变异分析
- Author:
Haofeng NING
1
;
Yuqiong CHAI
;
Wanzhen HUANG
;
Ya′nan WANG
Author Information
1. 洛阳市妇幼保健院遗传与产前诊断科，洛阳 471000
- Keywords:
EEF1A2 gene;
Whole exome sequencing;
Global developmental delay;
Autosomal dominant complex neurodevelopmental disorder;
Mental retardation 38
- From:
Chinese Journal of Medical Genetics
2024;41(11):1308-1315
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical manifestations of Autosomal dominant complex neurodevelopmental disorders due to variants of EEF1A2 gene and explore their pathogenic mechanisms. Methods:A 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).Results:The 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. Conclusion:The 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.
