We have provided links on this page to selected websites which we feel may be of interest to the PURA community. Please note that once you use one of these links to leave our website, we do not have any control over any other website you visit. Please refer to that websites privacy policy and/or terms and conditions of use before providing any personal information as we are not responsible for the protection or privacy of any information you provide to a third party.

PURA Syndrome Foundation Supported Clinical Papers

In 2014, the first PURA syndrome patients were described in medical literature. PURA syndrome patients share symptoms that are common for the condition. But, every patient is unique.

Therefore, a major collaboration between the University of Southampton (UK), Radboudumc Nijmegen (The Netherlands), Helmholtz Zentrum München (Germany) and the PURA Syndrome Foundation was established. Detailed clinical information of newly identified PURA syndrome patients all over the world was collected. With this information, researchers described the clinical spectrum of PURA syndrome in more detail. They also analysed the placement and type of mutations and found that at this stage, no clinical pattern can be seen. 

Reijnders MRF et al  - PURA syndrome: clinical delineation and genotype- phenotype study in 32 individuals with review of published literature


To download additional material, including charts and mutational analyses, please visit this link.


Published Clinical Papers on PURA syndrome 

The following list of published clinical papers are now available as open access. This means you do not need to pay to be able to download and read them. Please note that once you select one of these links you leave our website and we do not have any control over any other website you visit. See disclaimer at top of page.

  • Hunt et al 2014 - Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

  • Lalani et al 2014 - Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

  • Tanaka et al 2015 - De novo mutations in PURA are associated with hypotonia and developmental delay.

  • Reijnders MRF et al 2017 - PURA syndrome: clinical delineation and genotype- phenotype study in 32 individuals with review of published literature.

  • Lee et al 2017Expanding the neurodevelopmental phenotype of PURA syndrome.

Published Clinical Papers on 5q31.3 deletion syndrome 

The following is a list of published clinical papers on 5q31.3 deletion syndrome. These papers require payment for access. See disclaimer at top of page.


Published Case Studies on Individuals with either PURA syndrome or 5q31.3 deletion syndrome (including PURA) 

The following is a list of published case study papers, on individual PURA patients or 5q31.3 deletion patients. See disclaimer at top of page.

Open Access

  • Bonaglia et al 2015 - Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

  • Shimojima at al 2018 - Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

Payment Required

  • Rezkalla et al 2017 - Premature Thelarche and the PURA Syndrome.

  • Okamoto et al 2017 - Patient with a novel purine-rich element binding protein A mutation.

  • Mayorga et al 2018 - A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

  • Quio et al 2018 - Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.

Translated information for the PURA community.
Providing global educational is one of the missions of the PURA Syndrome Foundation.

As such, an overview of the PURA Syndrome Foundation, along with a Medical Condition Overview written by members of the PURA Syndrome Global Research Network, has been translated into a number of languages. Please select a link below to view the PDF. 


Translations on the PURA Syndrome Foundation website are prepared by third party translators. While reasonable efforts are made to provide accurate translations, portions may be incorrect. No liability is assumed by the PURA Syndrome Foundation for any errors, omissions, or ambiguities in the translations provided on this website.

Any person or entity that relies on translated content does so at their own risk. The PURA Syndrome Foundation shall not be liable for any losses caused by reliance on the accuracy or reliability of translated information. If you would like to report a translation error or inaccuracy, we encourage you to please contact us at

Gene Review - for clinicians
PURA-Related Neurodevelopmental Disorders 

Members of the PURA Syndrome Global Research Network, along with supporting global clinicians wrote a medical care document for doctors, known as a Gene Review.

PURA-Related Neurodevelopmental Disorders includes the following conditions: