Case Report: Neonatal PURA syndrome caused by a novel c.463C>G (p.Tyr155Ter) mutation

gene mutation [c.463C>G (p.Tyr155Ter), NM_005859.5], which had not been previously recorded in the literature. This case report aims to expand the known genotype of PURA syndrome and support clinicians in early detection and diagnosis. Early diagnosis facilitates immediate initiation of targeted swallowing function assessment and rehabilitation training, prevents aspiration pneumonia, and guides families in genetic counseling to avoid recurrence risk.