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What is PURA syndrome?

PURA syndrome is a rare neuro-developmental 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 is caused by a single spelling mistake in the genetic code of the PURA gene. A 5q31.3 deletion that includes the inactivation of the PURA gene can also result in many symptoms seen in PURA syndrome.

The PURA gene has a number of different roles. It provides instructions to the body to make a PURA protein that is expressed in all tissues, including the brain, muscle, heart, and blood. The protein has several different roles in the human cell and is known to be particularly important in brain development.

Currently there are approximately 640 patients confirmed to be diagnosed with PURA syndrome worldwide, with 310 pathogenic variants listed on public databases or discussed within publications. The p.Phe233del variant is the most common, with 41 cases confirmed so far, accounting for at least 6% of the patient population. 
With increased awareness and diagnostic testing, our numbers and community are growing.

Knowledge itself is power.      #PURAawareness

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Most common reported features of PURA syndrome.
Individuals with PURA syndrome have developmental delay, hypotonia and speech difficulties.  

Other common features include:   

  • Feeding difficulties  

  • Respiratory problems (including apneas)  

  • Seizures and seizure-like abnormal movements  

  • Movement disorder

  • Constipation  

  • Orthopaedic issues including hip dysplasia and scoliosis  

  • Vision issues

  • Endocrine disorders such as Vitamin D deficiency and kidney stones

The differential diagnosis for PURA include:

  • Central Hypoventilation syndrome

  • Spinal Muscular Atrophy

  • Cerebral Palsy

  • Myotonic/Muscular Dystrophy

  • Prader-Willi syndrome

  • Angelman syndrome

  • Rett syndrome

  • Pitt-Hopkins syndrome

  • Neurotransmitter disorders

  • Metabolic disorders

What is “5q31.3 deletion syndrome including PURA” and how is it related to PURA syndrome? 


Sometimes spontaneous deletions can occur, removing a large segment of genetic material from a chromosome. Such deletions may remove many adjacent genes, depending on the exact size and chromosomal location of the deletion.

 

Deletions of the chromosome region we call ‘5q31.3’ can include loss of one copy of the PURA gene, as well as a variable number of other genes, depending on the size of the deletion.  For this reason, the ‘5q31.3 deletion syndrome’ has overlapping features with PURA syndrome.  

 

All individuals with 5q31.3 deletion described in the medical literature have very similar clinical features, but none has an identical chromosomal deletion. Broadly speaking, children with a 5q31.3 deletion have similar problems as individuals with PURA syndrome. However, individuals with a 5q31.3 deletion tend to be more severely affected. A likely explanation for this is that other neighbouring genes included in the 5q31.3 deletion may also be contributory. One gene that is usually included in this deletion and is suspected to have an important role is NRG2.  

Doctor with Files

At the time of diagnosis, the following areas may be assessed by the patient’s medical team:  

 

  • Developmental assessment  

  • Genetic counselling 

  • Feeding management and constipation assessment, if necessary 

  • Respiratory studies, if necessary  

  • EEG (measurement of brain’s electrical activity) if seizures are suspected  

  • Brain imaging with MRI, if indicated  

  • Eye examinations  

  • Orthopaedic scans to check for hip dysplasia and scoliosis

  • Ultrasound scans of kidneys to exclude abnormalities and stones

  • Vitamin D measurements  

  • Bone density assessment if any specific concerns  

 

Doctor and Patient

Moving forward after the diagnosis, the following monitoring may be recommended by the patient’s medical team:  

 

  • Long term follow-up by a developmental pediatrician (if child) and other medical specialists as required

  • Monitoring for constipation  

  • Monitoring for musculoskeletal complications including hip dysplasia and scoliosis 

  • Sleep study if apnea suspected  

  • Referral for funding supports (Eg: NDIS if in Australia)

  • Speech and language therapy  

  • Physiotherapy and occupational therapy

  • Regular eyesight checks may be recommended  

  • EEG (measurement of brain’s electrical activity) if seizures are suspected 

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