Below is a summary for the ZBTB20 gene observed in research publications. This is not meant to take the place of medical advice.
What is ZBTB20-related syndrome?
ZBTB20-related syndrome happens when there are changes to the ZBTB20 gene. These changes can keep the gene from working as it should. Changes in the ZBTB20 gene can also lead to a syndrome called Primrose syndrome.
The ZBTB20 gene plays a key role in development.
Because the ZBTB20 gene is important in the development and function of brain cells, many people who have ZBTB20-related syndrome have:
- Large head and tall height
- Certain facial features
- Intellectual disability
- Hardening of the outer ear
Do people who have ZBTB20-related syndrome look different?
People who have ZBTB20-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Deeply set eyes: 26/32 (81 percent)
- Bulging forehead: 22/29 (76 percent)
- Drooping eyelids: 20/28 (71 percent)
- Large ears: 24/36 (67 percent)
- Large jaw: 16/28 (57 percent)
People who have ZBTB20-related syndrome often have an intellectual disability.
- Mild intellectual disability: 7/39 (18%)
- Moderate to severe intellectual disability: 33/39 (85%)
- Almost two-thirds have autism or features of autism. 20/33 (61%)
- More than one-third have self-injury behaviors. 11/26 (42%)
- More than one-third have sleep issues. 10/26 (38%)
- Simons Searchlight Community – ZBTB20 Facebook group
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 ZBTB20.
Research Article Summaries
We currently do not have any article summaries for ZBTB20, but we add resources to our website as they become available.
The information available about ZBTB20 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.
- Cordeddu V. et al. Nature Genetics, 46, 815-817, (2014). Mutations in ZBTB20 cause Primrose syndrome, www.nature.com/articles/ng.3035.
- Stellacci E. et al. Human Mutation, 39, 959-964, (2018). Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome, onlinelibrary.wiley.com/doi/abs/10.1002/humu.23546.
- Melis D. et al. Clinical Genetics, 97, 890-901, (2020). Primrose syndrome: Characterization of the phenotype in 42 patients, www.ncbi.nlm.nih.gov/pmc/articles/PMC7384157/.
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 ZBTB20 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Help the Simons Searchlight team learn more about ZBTB20 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.
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