PURA syndrome

PURA syndrome, also called PURA-related neurodevelopmental disorder, is a rare genetic disorder arising from haploinsufficiency of the PURA gene, which codes for a protein historically also named Pur-alpha, MRD31 or PUR1. Its discovery in 2014 identified a new class of intellectual disability syndromes tied to an RNA and DNA binding protein. Clinically it is characterised by developmental and speech delay, hypotonia in the newborn period, failure to thrive, excessive sleepiness and epilepsy, among other features. At the molecular level the protein helps regulate many genes and affects dendritic mRNA transport and cytoskeletal dynamics, so disrupting it impairs several neuronal processes. Diagnosis is confirmed by genetic testing and management is supportive. This entry records the literature and is not medical advice.