Phenotypic expansion of POGZ-related intellectual disability syndrome (White–Sutton syndrome)

This 2020 study reported additional patients with POGZ mutations to expand the phenotype of White–Sutton syndrome. Abstract: The authors present several new individuals (including adults) with heterozygous POGZ variants, identified through exome sequencing. These cases confirm core features of White–Sutton syndrome (developmental delay, intellectual disability, short stature, obesity, and characteristic facial features) and also document newly recognized findings: vision problems (strabismus, myopia), hearing loss in some patients, and behavioral manifestations like anxiety and ADHD. Notably, one adult patient developed psychiatric symptoms (schizoaffective disorder), suggesting potential adult-onset issues. Genotype–phenotype analysis did not find a clear correlation, as both truncating and missense variants caused similar clinical outcomes. This series broadens the known spectrum of findings in POGZ-related syndrome and underscores the variability – emphasizing that POGZ mutations consistently cause a syndromic intellectual disability (White–Sutton syndrome) but with a wider range of possible clinical features than initially described.