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The information for this summary of TRIP12-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full TRIP12 Gene Guide
The online Gene Guide includes more information about TRIP12 such as the chance of having another child with this condition, behavior and development concerns linked to TRIP12-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
TRIP12-related syndrome is also called developmental and epileptic encephalopathy 26. For this webpage, we will be using the name TRIP12-related syndrome to encompass the wide range of variants observed in the people identified.
What is TRIP12-related syndrome?
TRIP12-related syndrome happens when there are changes to the TRIP12 gene. These changes can keep the gene from working as it should.
Key Role
The TRIP12 gene plays a key role in the basic function of the cell.
Symptoms
Because the TRIP12 gene is important in brain development and function, many people who have TRIP12-related syndrome have:
- Developmental delay
- Intellectual disability
- Autism or features of autism
- Behavioral issues
- Seizures
- Anxiety
- Obesity
- Vision issues
- Defects of the cardiac, renal, genital, or skeletal system
How many people have TRIP12-related syndrome?
As of 2024, at least 88 people with TRIP12-related syndrome have been identified in a medical clinic. The first case of TRIP12-related syndrome was described in 2012.
Learn more about the TRIP12 gene and connect with other Simons Searchlight families with the resources below:
Support Resources
- Simons Searchlight Community – TRIP12 Facebook group
- TRIP12 Gene Community – Facebook group
- Geisinger Developmental Brain Disorder Gene Database – TRIP12
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care. There are currently no GeneReviews for TRIP12.
Research Article Summaries
We currently do not have any article summaries for TRIP12, but we add resources to our website as they become available. The information available about TRIP12 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
- Bramswig NC. et al. Human Genetics, 136, 179-192, (2017). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism, www.ncbi.nlm.nih.gov/pmc/articles/PMC5821420/.
- Zhang J. et al. Human Genetics, 136, 377-386, (2017). Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features, www.ncbi.nlm.nih.gov/pmc/articles/PMC5543723/.
- Donoghue T. et al. American Journal of Medical Genetics Part A, 182, 1801-1806, (2020). Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations, pubmed.ncbi.nlm.nih.gov/32424948/.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for TRIP12 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight Help the Simons Searchlight team learn more about TRIP12 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.