What is PURA syndrome? 

PURA syndrome is a rare genetic disorder. The PURA gene is located on the long arm of chromosome 5 (at position 5q31.3). PURA syndrome occurs when one of a person’s two copies of the PURA gene does not function normally. This can be caused by a spelling mistake in the gene or by loss of one copy of the gene (a whole gene deletion). Genes are instructions, which have important roles in our growth and development. They are made of DNA and are incorporated along with many other genes into organised structures called chromosomes. 

The PURA gene has a number of different roles. It encodes for a protein, pur-alpha, that is expressed in all tissues, including the brain, muscle, heart, and blood. The protein has a number of different roles in the human cell, including regulatory functions in DNA replication, transcription and translation of mRNA, and is known to be particularly important in brain development. This is why problems with the PURA gene are primarily associated with a neurodevelopmental disorder. 

Most common features 

All children with PURA syndrome who have been identified to date have at least a moderate to severe degree of learning disability and developmental delay. Other typical features include: 
 

  • Seizures and seizure-like abnormal movements 

  • Hypotonia (Low muscle tone) 

  • Feeding difficulties 

  • Respiratory problems (including obstructive and central apneas)

  • Hypersomnolence (excessive sleepiness)

  • Constipation

  • Abnormal vision

  • Temperature instability

  • Excessive hiccups

  • Orthopedic issues including hip dysplasia and scoliosis

  • Endocrine disorders such as Vitamin D deficiency

Donate Today

 

The PURA Syndrome Foundation is a USA registered 501(c)(3) charity organization. Donations in the USA and UK are both Tax Deductible.

For donations in the USA and elsewhere globally, please select the donate button here.

Donate today to help children and adults with PURA Syndrome.

The University of Southampton has created a charity grant code for PURA syndrome research. Donations can be made directly to the University, specifically to support PURA syndrome. These funds are placed in an account allocated specifically to PURA syndrome UK research.

Click here to download donation and university charity details

Please note these donations go directly to the University of Southampton PURA Research Team and not to the PURA Syndrome Foundation. These funds can only be allocated to PURA syndrome research and are overseen by Dr David Hunt and Prof Diana Baralle.

The University of Southampton is an exempt charity under the terms of the Charities Act 2011. Exempt Charity Number: X 19140
http://www.southampton.ac.uk/about/governance/charity.page
Individuals will need to contact their own tax agent to discuss how this affects them personally. 

 

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The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .