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Below is a summary for the ANKRD11 gene observed in research publications. This is not meant to take the place of medical advice.
Click here for our full ANKRD11 gene guide
The online Gene Guide includes more information about ANKRD11 such as the chance of having another child with this condition, behavior and development concerns linked to ANKRD11-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on the global geographical distribution of families.
Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!
View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.
What is ANKRD11-related syndrome?
ANKRD11-related syndrome happens when there are changes to the ANKRD11 gene or when a piece of DNA that includes the ANKRD11 gene is missing. These changes can keep the gene from working as it should. The syndrome is also known as KBG syndrome.
Key Role
The ANKRD11 gene plays a key role in the growth of the brain and bones. It’s also important for the growth of new cells and for connections between brain cells.
Symptoms
Because the ANKRD11 gene is important in the development and function of brain cells, many people who have ANKRD11-related syndrome have:
- Intellectual disability and developmental delay
- Behavioral issues
- Large upper front teeth, also called macrodontia, and other unusual facial features
- Skeletal differences, such as a curved spine and shortened fingers, shortened toes, or both
How many people have ANKRD11-related syndrome?
As of 2019, doctors had described about 100 people in the world with changes in the ANKRD11 gene. The first case of ANKRD11-related syndrome was described in 1975. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Support Resources
- Simons Searchlight Community – ANKRD11 Facebook group
- ANKRD11 Foundation Website – http://www.kbgfoundation.com
- Unique – ANKRD11 Guidebook
- Geisinger Developmental Brain Disorder Gene Database – ANKRD11
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.
Check out the GeneReviews for ANKRD11.
Research Article Summaries
Below, we have summarized research articles about changes in the ANKRD11 gene. We hope you find this information helpful.
The information available about ANKRD11 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 ANKRD11 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Clinical and genetic aspects of KBG syndrome
Original research article by K. Low et al. (2016).
Read the article here and the Simons Searchlight summary here.
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
Original research article by Y. Yang et al. (2013).
Read the article here and the Simons Searchlight summary here.
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
Original research article by A. Sirmaci et al. (2011).
Read the abstract here and the Simons Searchlight summary here.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about ANKRD11 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
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