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<p>The eukaryotic elongation factor 1 (eEF1) complex is essential for translational elongation and comprises eEF1A and eEF1B subunits. eEF1Bα, encoded by <i>EEF1B2</i>, functions as the complex’s guanine nucleotide exchange factor. Recently, biallelic loss-of-function variants in <i>EEF1B2</i> have been implicated in a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral abnormalities, and occasional seizures. We describe two siblings from consanguineous parents who present with profound developmental delay, severe speech impairment, and additional neurodevelopmental features. Whole-exome sequencing identified a homozygous nonsense variant in <i>EEF1B2</i>, classified as likely pathogenic. These cases expand the phenotypic spectrum of <i>EEF1B2</i>-related disease.</p>

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Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder

  • 期刊论文

  • 发表日期：

    2026年1月14日

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  • Serap Ketenci-İşlek,
  • Gizem Ürel-Demir,
  • Gülen Eda Utine,
  • Pelin Özlem Şimşek-Kiper

摘要

The eukaryotic elongation factor 1 (eEF1) complex is essential for translational elongation and comprises eEF1A and eEF1B subunits. eEF1Bα, encoded by EEF1B2, functions as the complex’s guanine nucleotide exchange factor. Recently, biallelic loss-of-function variants in EEF1B2 have been implicated in a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral abnormalities, and occasional seizures. We describe two siblings from consanguineous parents who present with profound developmental delay, severe speech impairment, and additional neurodevelopmental features. Whole-exome sequencing identified a homozygous nonsense variant in EEF1B2, classified as likely pathogenic. These cases expand the phenotypic spectrum of EEF1B2-related disease.