Researchers in Pakistan used whole exome sequencing to identify a new, previously unreported variant in the POGZ gene in an eight-year-old girl diagnosed with White-Sutton syndrome, alongside a novel YY1 gene variant in a boy with Gabriele-de-Vries syndrome — two unrelated consanguineous families. Both variants arose spontaneously (de novo) and protein modelling suggests the changes disrupt conserved protein domains in ways that could explain the children’s neurological symptoms. The study expands the known range of POGZ variants associated with White-Sutton syndrome and adds to understanding of these conditions in ethnically diverse, consanguineous populations. The findings underscore the value of genetic testing for reaching accurate diagnoses in children with complex, unexplained neurodevelopmental presentations.