There are approximately 840 patients with PURA syndrome confirmed globally, across 67 countries. To date there have been at least 345 different pathogenic (disease causing) variants of the PURA gene reported in public data. The p.Phe233del variant is the most common, accounting for at least 6% of the patient population (PURA Foundation Australia, Feb 2026).

With increased awareness and diagnostic testing, our numbers and community are growing.

What is PURA syndrome?

PURA syndrome is a rare neuro-developmental disorder. PURA syndrome is caused by pathogenic variants in the PURA gene. Located on Chromosome 5, the PURA gene is essential for the formation of pur-alpha, a protein which controls the activity of various genes (transcription), transport of different RNA molecules and generation of multiple proteins (translation), and is also vital for DNA replication.

These roles are critical for normal development of the brain by directing the growth, division and connection (synapse formation) of neurons (nerve cells), and the formation and maturation of myelin, a substance that protects nerves and promotes efficient nerve impulse transmission. PURA pathogenic variants often arise spontaneously (de novo), which means that they may appear for the first time in an infant without being present in any other family members. It has also been recently shown that in rare instances a parent with PURA syndrome may pass their PURA pathogenic variant on to their child.

Knowledge itself is power. #PURAawareness

Most commonly reported symptoms of PURA syndrome.

Symptoms of PURA syndrome vary between individuals.

Symptoms often present from birth or early childhood. Early symptoms include hypotonia (low muscle tone) from birth, feeding and swallowing difficulties (dysphagia), breathing (respiratory) challenges and sleep issues.

People with PURA syndrome have moderate to severe intellectual disability and difficulty communicating (i.e., speech and/or language conditions). Other symptoms can include movement disorder, excessive hiccups, issues with eyes and vision, and constipation.

There may also be other features such as hip dysplasia, scoliosis, abnormalities with heart and blood vessels, hormone deficiencies and delayed puberty. Bone density and serum vitamin D levels can be low, with osteopenia or osteoporosis reported.

In PURA syndrome, epilepsy is common, and an individual may experience more than one type of seizure over time. A seizure is a single episode caused by abnormal electrical activity in the brain.Epilepsy is the medical condition defined by a tendency to have recurrent, unprovoked seizures. Seizures can first occur at a wide range of ages, from the newborn (neonatal) period through to early adulthood. If epilepsy develops, seizures may be frequent and can be difficult to control.

Most individuals with PURA syndrome are non-speaking. This means that speech (i.e., the ability to produce speech sounds) is significantly impacted or not used at all. Some people who are non-speaking have better receptive language skills compared to expressive language skills (which means they may be able to understand more than they can communicate), however both can be significantly impacted.

Cause and Inheritance

All individuals have two copies of the PURA gene – one copy inherited from each parent. PURA syndrome is an autosomal dominant condition, which means that having a genetic variant in just one of the PURA gene copies can result in PURA syndrome.

For most individuals with PURA syndrome, their genetic variant in the PURA gene occurs randomly in them and is not passed down from one of their parents. In a very small number of reported families, the genetic variant has been passed down from a parent who has the genetic change. This change may be in all or some of their cells (this is called genetic mosaicism); the parent may be mildly affected or unaffected (has typical learning abilities and health).

Emergency Management

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with PURA syndrome at emergency departments or in other hospital services. They:

Will need 24/7 attendant/carer support in emergency and hospital settings, regardless of age.
Will not be able to communicate with spoken words and may use alternative communication methods such as Key Word Sign, sign language, or Augmentative and Alternative Communication (AAC) tools and devices. These must be available at all times.
May have stronger receptive communication skills (ability to understand information) than expressive communication skills (ability to produce language).
May have seizures and/or movement disorder.
May require hoist access for transfers.
May have feeding difficulties and continence issues.
May present with myopathy as well as other neuromuscular abnormalities.
May experience difficult IV cannulation and benefit from ultrasound guidance.
May have orthopaedic metalware that should be considered before imaging scans.
May have sensory issues such as hypersensitivity (over-responsiveness) or hypo-sensitivity (under-responsiveness) to sensory input, which can manifest as reactions to loud noises, touch, or bright lights.

Diagnosis and Differential Diagnosis

Diagnosis of PURA syndrome may be suspected based on clinical characteristics and must be confirmed by genetic testing.

It has been suggested that a diagnosis of PURA syndrome should be considered in infants with characteristics such as hypotonia (weak muscle tone), feeding issues and respiratory difficulties, with or without seizures. As part of the diagnostic process, doctors may rule out other conditions that have similar symptoms (differential diagnosis), such as central hypoventilation syndrome, spinal muscular atrophy, cerebral palsy, myotonic/muscular dystrophy, Prader-Willi syndrome, Angelman syndrome, Rett syndrome, Pitt-Hopkins syndrome, Glut1 Deficiency Syndrome, Nonketotic Hyperglycinemia, and neurotransmitter disorders.

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
Gynacology, endocrinology and hormone assessments if indicated
Vitamin D measurements
Bone density assessment if any specific concerns

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 or sleep distrubances suspected
Referral for funding supports (Eg: NDIS if in Australia)
Speech and language therapy
Physiotherapy and occupational therapy
Regular eyesight checks may be recommended
Monitoring for puberty outcomes
EEG (measurement of brain’s electrical activity) if seizures are suspected

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.

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