Novel POGZ Nonsense Variant Identified in Lebanon’s First Diagnosed White-Sutton Syndrome Case

Novel POGZ Nonsense Variant Identified in Lebanon’s First Diagnosed White-Sutton Syndrome Case

Researchers report the first diagnosed case of White-Sutton syndrome (WHSUS) in Lebanon, identified in a 10-month-old infant presenting with failure to thrive, chronic diarrhea, vomiting, and recurrent respiratory infections. Genetic testing revealed a previously unreported nonsense variant in the POGZ gene (c.1135C>T), adding to the known spectrum of disease-causing mutations. The child displayed a relatively mild clinical presentation, reinforcing that WHSUS can vary considerably between patients. This case expands both the geographic and clinical range of documented WHSUS cases worldwide.