What is PURA Syndrome?

What IS PURA Syndrome anyway?  As we speak, researchers are attempting to learn more about PURA Syndrome; however, here are a few things we know about this rare genetic condition.....

 

Frequency

There are approximately 250 identified cases of PURA Syndrome worldwide.

Visit the  PURA Syndrome Foundation  to learn more.  Donate.

Visit the PURA Syndrome Foundation to learn more. Donate.

 

Genetics

PURA Syndrome occurs when one of a person's two copies of the PURA gene are not functioning properly.  The PURA gene is located on chromosome 5.  PURA Syndrome can be caused by a series of variations or mutations on the PURA gene or due to one single deletion.  At this time, a genetic test called Whole Exome Sequencing (WES) is required to diagnose PURA Syndrome though we could see additional diagnosis capabilities in the future.

 

Inheritance

It seems that most cases of PURA Syndrome are considered de novo, which means the gene likely mutated during formation of reproductive cells or in early embryonic development.  It also seems that generally, parents are at very low risk of having another child with PURA Syndrome, though there may be a slightly increased risk (less than 1%) due to a rare phenomenon called 'gonadal mosaicism.'  This occurs when a parent carries the genetic cluster in a small cluster of reproductive cells.  As a result, the mutation would not be detected in a parent's blood test.  If you have a child with PURA Syndrome and would like more specific information regarding the likelihood of having another child with this genetic mutation, please consult with your geneticist or genetic counselor. 

 

Taylor with her walker

Characteristics of PURA Syndrome

Moderate to severe intellectual disability

Delayed development of speech and mobility

Difficulty with expressive language skills (vocabulary and production of speech) - some individuals remain nonverbal

Hypotonia or low muscle tone    

Feeding difficulties

Problems with swallowing or dysphagia

Respiratory problems

Excessive sleepiness, aka hypersomnolence

Difficulty maintaining body temperature

Recurrent seizures or epilepsy 

Hip dysplasia, scoliosis, and other orthopedic issues

Endocrine disorders such as Vitamin D Deficiency

 

@ToughLikeTaylor