A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype

This 2020 report describes a novel patient with White–Sutton syndrome (caused by a new POGZ variant), providing additional clinical information that expands the known phenotype. Abstract: White–Sutton syndrome is an autosomal dominant neurodevelopmental disorder due to POGZ mutations. The authors report a new patient carrying a de novo truncating POGZ variant. The patient’s phenotype included global developmental delay, intellectual disability, hypotonia, behavioral issues, distinctive facial dysmorphisms, short stature, and vision problems. Notably, this case presented with some previously unreported features, including feeding difficulties and peripheral neuropathy signs, thereby refining the clinical spectrum of the syndrome. By comparing this patient to previously described cases, the paper highlights common features (e.g. developmental delay, microcephaly, dysmorphic facies) and rare manifestations, underscoring phenotypic variability. The findings broaden the mutational repertoire (reporting a new POGZ mutation) and the associated phenotype of White–Sutton syndrome.