Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections

This report describes a patient with a <i>de novo</i> missense variant in the N-terminal zinc-finger domain of <i>ZEB2</i> who presented with neurodevelopmental delay, atypical facial features, and recurrent respiratory infections, alongside a reduction in infection frequency during zinc supplementation. The variant is classified as likely pathogenic, and these observations expand the phenotypic variability potentially associated with <i>ZEB2</i> variants. Additional cases and functional studies are required to confirm any causal link between the variant, the observed phenotype, and the effects of zinc supplementation.