PURA

Genetic Basis & Molecular Pathophysiology PURA syndrome (OMIM #616513) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the PURA gene (Pur-alpha homolog, Drosophila; OMIM: 602479), located at chromosome 5q31.2. The gene spans ~18 kb and comprises five exons, encoding the PUR-alpha protein—a highly conserved, ubiquitously expressed nucleic acid-binding protein critical for…