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

Abstract excerpt

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,...

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