HNRNPU

Below is a summary for the HNRNPU gene observed in research publications. This is not meant to take the place of medical advice.

What is HNRNPU-related syndrome?

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

Key Role

The HNRNPU gene plays a key role in the development of the brain. It is important in keeping people’s DNA organized in cells.

Symptoms

HNRNPU-related syndrome can have moderate to severe effects on the way that communication skills, social skills, and learning skills develop. Because the HNRNPU gene is important in development, many people who have HNRNPU-related syndrome may have:

Developmental delay, or intellectual disability, or both
Speech problems
Autism spectrum disorder or features of autism
Seizures

Do people who have HNRNPU-related syndrome look different?

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

Larger than average eyebrows
Larger than average nasal bridge
Larger space between the upper and lower eyelids
Thin upper lip

Nearly 90 percent of people who have HNRNPU-related syndrome have at least one of these features.

Support Resources

Simons Searchlight Community – HNRNPU Facebook group
HNRNPU Foundation website – hnrnpu.org
HNRNPU Parent Connect/Share Page – Facebook group
HNRNP-Related Parent Connect – Facebook group
Geisinger Developmental Brain Disorder Gene Database – HNRNPU

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 is currently no GeneReviews for HNRNPU.

Research Article Summaries

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

The information available about HNRNPU 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 HNRNPU 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 HNRNPU 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 HNRNPU families.

Click here to share your family’s story!