Novel POGZ Variant Linked to White-Sutton Syndrome and Celiac Disease in New Case Report
Researchers report a new case of White-Sutton syndrome (WHSUS) in a patient carrying a previously undescribed variant in the POGZ gene, presenting with developmental delay, autism, myoclonic epilepsy, and low muscle tone. Unusually, the patient was also diagnosed with celiac disease (CD), prompting the authors to suggest a possible link between POGZ and CD for the first time. Since POGZ is known to regulate chromatin remodeling — a process also implicated in celiac disease — the authors propose this connection may broaden the recognized clinical features of WHSUS. They call for further genetic, functional, and population-level studies to investigate the potential association.









