what is pura syndrome

PURA syndrome, also known as PURA-related neurodevelopmental disorder, is a rare genetic disorder caused by mutations in the PURA gene located on chromosome 5. This gene encodes the protein Pur-alpha, which plays a crucial role in brain development, including nerve cell growth, myelin formation, and regulation of gene expression at the transcriptional and translational levels. The disorder was first described in medical literature in 2014 and primarily affects neurodevelopment. It is characterized by moderate to severe developmental delays, intellectual disability, delayed speech and motor skills (such as walking), and hypotonia (low muscle tone). Many individuals with PURA syndrome have difficulty feeding due to swallowing problems and exhibit excessive daytime sleepiness, breathing irregularities during infancy, epilepsy with seizures often resistant to medication, and movement disorders like dystonia and dyskinesia. Additional symptoms may include visual disturbances, skeletal abnormalities such as scoliosis, heart, urogenital, and endocrine system anomalies, and dysmorphic facial features. The syndrome is generally caused by spontaneous (de novo) autosomal dominant mutations, meaning it typically occurs in individuals without a family history of the disorder. Diagnosis requires genetic testing, and while there is no cure, management focuses on supportive care tailored to the individual's symptoms. Survival into adulthood is expected, as PURA syndrome is a neurodevelopmental rather than a degenerative disorder. In summary, PURA syndrome is a rare neurodevelopmental disorder marked by intellectual disability, motor and speech delays, epilepsy, and various systemic issues due to mutations in the PURA gene affecting brain development and function.