Alternate gene names:none known
Associated syndromes or conditions: PURA syndrome, Intellectual disability, autosomal dominant 31
Genomic location: 5q31.3
Diagnoses observed in people with changes in the PURA gene:
- Autism Spectrum Disorder - Yes
- Intellectual Disability or Developmental Delay - Yes
- Epilepsy or Seizures - Yes
- Attention Deficit Hyperactivity Disorder - No
- Schizophrenia - No
- Bipolar Disorder - Yes
- PURA syndrome - International Website for PURA support
- Friends of PURA syndrome - Facebook support community
Infographic: https://magic.piktochart.com/output/14784119-pura-infographic (share this link with others)
Research Article Summaries:
As we learn more from children who have these gene changes, we expect this list of resources and information to grow.
- Changes in this gene have been identified in children with a variaty of differences, like: autism, features of autism, an autism spectrum disorder, and/or intellectual disability.
Hunt et al., (2014) – Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
The Deciphering Developmental Disorders (DDD) study in the United Kingdom uses gene sequencing to identify rare genetic changes in children who have severe, sporadic, and undiagnosed developmental delay. This paper reports on four individuals (three identified through DDD and one through a similar sequencing study), who have a de novo genetic change (mutation not found in either parent) in the PURA gene. The PURA gene plays an important role in brain development; and while clinical observations and diagnoses vary, developmental delay and learning disabilities are very common in individuals with a mutation in PURA. Hypotonia (muscle weakness), feeding difficulties, and seizures are also commonly observed.
Ranging from age 4 to age 14, Hunt and colleagues reported that all four individuals experienced delay in developmental milestones (walking unsupported, first words, etc.), issues with motor skills, behavioral problems, and differences in facial features. Three of the four individuals experienced neonatal hypotonia and feeding issues, and two of the four are reported to have endocrine-related symptoms (involving the secretion of hormones in the body). Further clinical observations of the four individuals are summarized below.
While all four individuals have some similar or overlapping features, the features are common among people without PURA gene changes as well. We call findings like hypotonia, speech / language delays and motor delays “nonspecific.” From this study, it’s clear that there are not unique, diagnostic clues that can point a clinician to a diagnosis of PURA based only on physical examination and medical history. Thus, most patients with PURA gene changes will be identified through whole exome sequencing or through gene panels with a focus on genes related to developmental delay. Through research like this, we are learning about the natural history of PURA gene changes and discovering that features can be variable from child to child.
Back to: Genetic Changes We're Studying