ZBTB20
The information for this summary of ZBTB20-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ZBTB20 Gene Guide
The online Gene Guide includes more information about ZBTB20 such as the chance of having another child with this condition, behavior and development concerns linked to ZBTB20-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
ZBTB20-related syndrome is also called Primrose syndrome and intellectual disability-cataracts-calcified pinnae-myopathy syndrome. For this webpage, we will be using the name ZBTB20-related syndrome to encompass the wide range of variants observed in the people identified.
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.
Key Role
The ZBTB20 gene plays a key role in development.
Symptoms
Because the ZBTB20 gene is important for brain activity, many people who have ZBTB20-related syndrome have:
- Intellectual disability
- Hearing loss
- Outer ear calcification
- Speech delay
- Vision issues
- Large head
- Obesity
- Muscle wasting and contractures
- Brain changes observed on magnetic resonance imaging (MRI)
- Behavior issues, such as autism, self-injury, aggression
How many people have ZBTB20-related syndrome?
As of 2024, about 78 people with ZBTB20-related syndrome have been identified in a medical clinic.
Learn more about ZBTB20-related syndrome and connect with other Simons Searchlight families with the resources below.
Support Resources
- Simons Searchlight Community – ZBTB20 Facebook group
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 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.
Research Opportunities
Simons Searchlight
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.
Family Stories
We do not currently have any stories from ZBTB20 families.
Click here to share your family’s story!