HNRNPU

The information for this summary of HNRNPU-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full HNRNPU Gene Guide

The online Gene Guide includes more information about HNRNPU such as the chance of having another child with this condition, behavior and development concerns linked to HNRNPU-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

HNRNPU-related syndrome is also called developmental and epileptic encephalopathy 54, or HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD). For this webpage, we will be using the name HNRNPU-related syndrome to encompass the wide range of variants observed in the people identified. 

What is HNRNPU-related syndrome?

HNRNPU-related syndrome happens when there are changes in 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

Because the HNRNPU gene is important for brain activity, many people who have HNRNPU-related syndrome have: 

  • Developmental delay, or intellectual disability, or both 
  • Speech problems 
  • Autism spectrum disorder or features of autism 
  • Seizures 
  • Brain changes observed on magnetic resonance imaging (MRI)

How many people have HNRNPU-related syndrome?

As of 2024, over 140 people with HNRNPU-related syndrome have been identified in a medical clinic. 

Learn more about the HNRNPU gene and connect with other Simons Searchlight families with the resources below:

+

Support Resources

+

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!