ZNF292

Below is a summary for the ZNF292 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is ZNF292-related syndrome?

ZNF292-related syndrome happens when there are changes to the ZNF292 gene. These changes can keep the gene from working as it should.

Key Role

The ZNF292 gene plays a key role in brain growth.

Symptoms

Because the ZNF292 gene is important in the development and function of brain cells, many people who have ZNF292-related syndrome have:

Intellectual disability
Speech delay
Autism

How many people have ZNF292-related syndrome?

As of 2020, doctors had described about 30 people in the world with changes in the ZNF292 gene. The first case of ZNF292-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Do people who have ZNF292-related syndrome look different?

People who have ZNF292-related syndrome may look different. Appearance can vary and can include some but not all of these features:

A very small lower jaw
Widely spaced eyes

SPEECH

Almost everyone has speech delays.

BEHAVIOR

More than one-half had autism or symptoms of autism. One-third had attention deficit hyperactivity disorder, also called ADHD.

BEHAVIOR

Of those who had a medical test called an MRI that looks at the structure of the brain, about one-half had changes in brain structure.

Learn more about ZNF292-related syndrome and connect with other Simons Searchlight families with the resources below:

Support Resources

Simons Searchlight Community – ZNF292 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 ZNF292 .

Research Article Summaries

We currently do not have any article summaries for ZNF292, but we add resources to our website as they become available. The information available about ZNF292 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.

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 ZNF292 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 Article Summaries:

Mirzaa GM. et al. Genetics in Medicine, 22, 538-546, (2020). De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder, www.ncbi.nlm.nih.gov/pmc/articles/PMC7060121/.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ZNF292 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

Stories from ZNF292 families.

Reese

Click here to share your family’s story!