PURA syndrome is a rare genetic syndrome and was first described in 2014. Currently, there are an estimated 270 people affected by PURA syndrome. However with increasing awareness and knowledge about this condition we expect this number to increase.
The PURA gene encodes the pur-alpha protein. This protein has a number of different roles including regulatory functions in DNA replication, DNA transcription and mRNA translation. Furthermore, it is known to be particularly important in brain development.
In the majority of cases, this is a de-novo genetic change.
To date, all individuals with PURA syndrome have at least a moderate to severe degree of learning disability and developmental delay. Other typical features include neurodevelopmental delay, seizures, movement disorders, hypotonia and hypersomnolence. This is a multisystem disorder and can also cause feeding difficulties and problems with constipation, vision, respiratory system (obstructive and central apnoea), orthopaedic manifestations (including hip dysplasia and scoliosis) and vitamin D deficiency.