ZBTB20

Below is a summary for the ZBTB20 gene observed in 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.

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.

Key Role

The ZBTB20 gene plays a key role in development.

Symptoms

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
Autism
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)

Learning

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%)

Behavior

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%)

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!