Researchers describe a rare familial case of White-Sutton syndrome in which a mother and her two children all carry the same nonsense variant in the POGZ gene (p.Arg508*). The case highlights striking differences in how the condition presents across family members: the children showed global developmental delay, hypotonia, and speech impairment, while the mother had a much milder picture of neuropsychiatric and gastrointestinal symptoms. Genetic testing confirmed the variant arose spontaneously in the mother and was then passed on to both children, one of whom also carries an additional chromosomal microduplication. The findings underscore how variable White-Sutton syndrome can look even within the same family, and stress the value of thorough genetic testing in relatives of affected individuals.