This website provides information on patients with mutations in the PURA gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PURA gene is a multisystem disorder characterized by developmental delay and moderate to severe intellectual disability. Other typical features include excessive sleepiness, hypotonia, feeding difficulties, breathing abnormalities, movement disorders and seizures. Other documented associations include skeletal abnormalities, visual problems and endocrine dysfunction. Not all individuals with a mutation in the PURA gene have these features.

There is so much more to learn about PURA syndrome. The PURA Syndrome Foundation is funding a PURA Syndrome Natural History Study based at the University of Southampton. The aim of this is to increase knowledge about PURA syndrome and how it affects people with PURA syndrome over time. Further information about how you can get involved in this should be available by the end of 2018 at https://www.purasyndrome.org.

Diana Baralle, Consultant Clinical Genetics, Professor Genomic Medicine, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, d.baralle@soton.ac.uk

Rebecca Mawby, PURA Clinical Fellow, Paediatric Registrar, University Hospital Southampton, Tremona Road, Southampton, SO16 6YD, r.l.mawby@soton.ac.uk

Margot Reijnders, Clinical geneticist in training, Maastricht UMC+, Maastricht, The Netherlands, margot.reijnders@mumc.nl

Dierk Niessing, Professor, Institute’s head & group leader, Helmholtz Zentrum München & Ulm University, Munich & Ulm, Germany, niessing@helmholtz-muenchen.de

Jennifer Gordon, Associate Professor, Department of Neuroscience, Temple University School of Medicine, Philadelphia, PA USA, jennifer.gordon@temple.edu

Justin Davies, Consultant Paediatric Endocrinologist, University Hospital Southampton NHS Trust, Tremona Road, Southampton, SO16 6YD, Justin.Davies@uhs.nhs.uk

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