TRIP12

Below is a summary for the TRIP12 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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 the development and function of brain cells, many people who have TRIP12-related syndrome have:

Intellectual disability
Speech delay
Autism

Do people who have TRIP12-related syndrome look different?

People who have TRIP12-related syndrome may look different. Appearance can vary and can include some but not all of these features:

Ears: Differences in the shape of the ear, such as large lobes.
Eyes: Differences in the shape of the eye, such as a skin fold of the upper eyelid that covers the inner corner, known as an epicanthic fold.
Mouth: A wide mouth.

LEARNING

Everyone studied to date that has TRIP12-related syndrome has an intellectual disability, or developmental delay.

BEHAVIOR

Many people had aggressive episodes. Most people had autism.

SPEECH

Everyone studied to date that has TRIP12-related syndrome has speech delay.

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.

Family Stories

Stories from TRIP12 families:

Dylan

Click here to share your family’s story!