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.....
There are approximately 250 identified cases of PURA Syndrome worldwide.
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.
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.
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
Problems with swallowing or dysphagia
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