The EEF1A2 gene encodes eukaryotic translation elongation factor 1α2, an integral component of the elongation factor complex. Heterozygous pathogenic variants in EEF1A2 are associated with neurodevelopmental disorders characterized by epilepsy, global developmental delay, and autism. To date, dilated cardiomyopathy has only been reported in two siblings with neurodevelopmental phenotypes and a homozygous missense variant in EEF1A2. This report describes a nine-year-old female patient who presented with neurodevelopmental phenotypes and dilated cardiomyopathy. Analysis of 193 epilepsy genes by focused exome sequencing revealed a novel heterozygous variant c.46G > C (p.Val16Leu; NM_001958.3) in EEF1A2. The variant was not detected in either parent, confirming its de novo origin. No additional variants that explain the patient's phenotypes were found by subsequent whole exome analysis. Copy number analysis of the exome data and exon-level microarray excluded a deletion in the other allele of EEF1A2. We present the first patient with a heterozygous pathogenic EEF1A2 variant who had dilated cardiomyopathy as well as neurodevelopmental phenotypes, suggesting that this cardiac phenotype may be associated with the autosomal dominant form of the EEF1A2-related disorder.

的EEF1A2基因编码真核翻译延伸因子1α2，延伸因子复合物的一个组成部分。EEF1A2中的杂合病原体变异与以癫痫，整体发育迟缓和自闭症为特征的神经发育障碍有关。迄今为止，仅在两个具有神经发育表型和EEF1A2纯合错义变异的兄弟姐妹中报道了扩张型心肌病。该报告描述了一位9岁的女性患者，该患者表现出神经发育表型和扩张型心肌病。的193个癫痫基因通过聚焦外显子测序分析揭示了新的杂变体c.46G> C（p.Val16Leu; NM_001958.3）的EEF1A2。在任一亲本中均未检测到该变体，从而确认了其从头开始。随后的整个外显子组分析未发现其他解释患者表型的变异。外显子组数据和外显子水平微阵列的拷贝数分析排除了EEF1A2其他等位基因的缺失。我们介绍了第一例具有杂合性致病性EEF1A2变体的人，该变体具有扩张型心肌病以及神经发育表型，提示该心脏表型可能与EEF1A2相关疾病的常染色体显性形式有关。