Below is a summary of SETBP1 haploinsufficiency disorder observed in research publications. This is not meant to take the place of medical advice.
Simons Searchlight just released a new report that includes updated information on your genetic community. The report also focuses on development using a survey called the Vineland Adaptive Behavior Scales. Caregivers share how their family members with our genetic condition respond to different skills like communication, self-care, and social skills. This survey helps doctors and researchers understand how our skills change over time.
If you want to help contribute to this research, it’s important to participate in surveys. To view past registry reports and learn more, go to the Simons Searchlight website and click on “Previous Registry Reports.”
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What is SETBP1 haploinsufficiency disorder?
SETBP1 haploinsufficiency disorder happens when there are changes to the SETBP1 gene. These changes can keep the gene from working as it should.
Genetic variants in SETBP1 can cause other conditions, including Schinzel-Giedion syndrome and SETBP1-related disorders. The information below focuses on genetic variants that lead to SETBP1 haploinsufficiency disorder.
The SETBP1 gene is important for the function and development of brain cells.
Because the SETBP1 gene is important for the brain, some people may have:
- Intellectual disability
- Attention deficit hyperactivity disorder, also called ADHD
- Low muscle tone
- Sleep problems
- Vision problems, often requiring glasses
- Speech issues
- Developmental delay
- Behavior issues
Do people who have SETBP1 haploinsufficiency disorder look different?
People with SETBP1 haploinsufficiency disorder may look different. Appearance can vary and can include some but not all of these features:
- Long chin
- Longer than average face
- Long, narrow head shape, front to back
- Flat back of the head
- Thin upper lip
How many people have SETBP1 haploinsufficiency disorder?
As of 2022, about 142 people with SETBP1 haploinsufficiency disorder have been identified in a medical clinic.
- SETBP1 Foundation Website – SETBP1.org
- SETBP1 Foundation – Facebook Page
- Simons Searchlight Community – SETBP1 Facebook group
- Geisinger Developmental Brain Disorder Gene Database – SETBP1
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.
Check out the GeneReviews for SETBP1 halpoinsufficiency disorder.
Simons Searchlight Family Research Conference 2022 Registry Update
Simons Searchlight Family & Research Conference 2021 SETBP1 Virtual Conference
Simons Searchlight Family & Research Conference 2020 SETBP1 Virtual Conference
Research Article Summaries
Below, we have summarized research articles about changes in the SETBP1 gene. We hope you find this information helpful. The information available about SETBP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.
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 SETBP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
- Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Original research article by R. Acuna-Hidalgo et al. (2017). Read the abstract here and the Simons Searchlight summary here.
- Refining analyses of copy number variation identifies specific genes associated with developmental delay Original research article by B.P. Coe et al. (2014). Read the abstract here and the Simons Searchlight summary here.
Help the Simons Searchlight team learn more about SETBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.
The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in SETBP1. Click here to learn more about this opportunity.
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.