Overview
DasPURA 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 the loss of a copy of the gene (a complete gene deletion). Genes are instructions that play an important role in our growth and development. They consist of DNA and are bundled together with many other genes into organised structures called chromosomes.
The PURA gene has a number of different functions. It encodes a protein, Pur-alpha, which is produced in all tissues, including the brain, muscles, heart and blood. Pur-alpha plays an important role in various processes within human cells, including regulatory functions in DNA replication, transcription and translation of mRNA, and is particularly important for brain development. For this reason, problems with the PURA gene are primarily associated with a neurodevelopmental disorder.
Additional information for clinicians on neurodevelopmental disorders associated with PURA can be found in the online database PURA Gene Review PURA-Related Neurodevelopmental Disorders.
Other conditions with similar characteristics include:
- Central hypoventilation syndrome [OMIM209880]
- Spinal muscular atrophy [OMIM253300]
- Myotonic dystrophy [OMIM160900]
- Prader-Willi syndrome [OMIM176270]
- Angelman syndrome [OMIM105830]
- Rett syndrome [OMIM312750]
- Pitt-Hopkins syndrome (OMIM610954)
- Metabolic disorders
The most common symptoms of PURA syndrome
All patients with PURA syndrome recorded to date have at least mild to severe learning difficulties and developmental delay. Other typical symptoms include:
- Seizures and seizure-like abnormal movements
- Hypotonia (low muscle tone)
- Feeding difficultiesRespiratory problems (including obstructive and central apnoea)
- Hypersomnolence (excessive tiredness)
- Constipation
- Visual disturbances
- Body temperature instability
- Excessive hiccups
- Orthopaedic problems including hip dysplasia and scoliosis
- Endocrine disorders such as vitamin D deficiency
How many people suffer from PURA syndrome
PURA syndrome is a rare condition that was first described in the medical literature in 2014. To date, over 700 people worldwide (as of 2025) have been diagnosed with this condition, including both adults and children. However, with the increasing use of the latest gene sequencing techniques, it is expected that this condition will be diagnosed in many more people (probably several thousand) in the coming years.
Why does the condition occur?
When children are conceived, the genetic material of their parents is copied into the egg and sperm, from which a new child is formed. The biological copying process is not perfect, and sometimes random, rare changes occur. Such changes cannot therefore be found in the child’s parents. In almost all families known to us so far, the DNA change in PURA has occurred ‘out of the blue’ in this way (this is what geneticists refer to as a de novo mutation).
For this reason, the parents are in no way ‘to blame’ for this genetic defect and the occurrence of PURA syndrome.
Could it happen again in the same family?
As long as neither parent is found to carry the same PURA mutation as the child, the likelihood of having another child with the same genetic mutation is considered extremely low. Empirically, this risk is less than 1%. The reason for a certain residual risk of recurrence lies in a rare phenomenon known as ‘gonadal mosaicism’. This occurs when a parent carries a genetic mutation that is, however, confined to a small group of egg or sperm cells. Consequently, the genetic mutation would not be detected in a blood test of that parent. For specific advice on the likelihood of the PURA mutation recurring, it is advisable to speak to a clinical geneticist or genetic counsellor.
If you are caring for someone with PURA syndrome and have not yet been in contact with other patients but would like to exchange information with us, please send us an email or call us on 0731-5023161.
Links
https://www.thieme-connect.com/products/ejournals/abstract/10.1055/a-1712-8950
https://www.ai-online.info/2022/09-2022/orphan-supplement-11-2022/pura-syndrome.html
https://www.doccheck.com/de/detail/articles/42138-pura-syndrom-molekulares-puzzle-geloest