PURA syndrome is a rare genetic disorder caused by mutations in the PURA gene on chromosome 5. This gene codes for a protein that is important for the regulation of gene expression and the stability of DNA. Mutations in the PURA gene lead to a malfunction of this protein and thus impair various biological processes.

PURA syndrome is associated with a variety of symptoms that usually manifest in early childhood. The most common features include developmental delays, intellectual disability, speech disorders and motor problems such as coordination disorders or muscle hypotonia (reduced muscle tone). Behavioral abnormalities such as autistic traits and epileptic seizures are also common.

The symptoms and their severity vary greatly, but many affected children never reach the normal developmental milestones. Prognosis depends on the severity of the mutations and early intervention. There is currently no cure for PURA syndrome, but targeted therapies such as occupational therapy, physiotherapy and speech therapy can support affected children to maximize their abilities and improve their quality of life.