HNRNPH2

Below is a summary for the HNRNPH2 gene observed in research publications. This is not meant to take the place of medical advice.

LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

What is HNRNPH2-related neurodevelopmental disorder?

HNRNPH2-related neurodevelopmental disorder happens when there are changes in the HNRNPH2 gene. These changes can keep the gene from working as it should.

HNRNPH2-related neurodevelopmental disorder is also called Bain type of X-linked syndromic intellectual disability.

Key Role

The HNRNPH2 gene plays an important role in processing messenger RNA, or mRNA, which cells use to make proteins.

Symptoms

Because the HNRNPH2 gene is important for many parts of the body, some people may have:

Intellectual disability
Seizures
Speech and language difficulties
Autism
Abnormal muscle tone
Movement issues
Attention deficit hyperactivity disorder, or ADHD
Aggression
Anxiety
Feeding issues and constipation
Brain changes seen on magnetic resonance imaging (MRI) for some people

Do people who have HNRNPH2-related neurodevelopmental disorder look different?

People who have HNRNPH2-related neurodevelopmental disorder may look different. Appearance can vary and can include some but not all of these features:

Short height
Difficulty gaining weight
Smaller than average head size
Wide-set eyes
Full and wide lips
Sideways curvature of the spine, also called scoliosis

How many people have HNRNPH2-related neurodevelopmental disorder?

As of 2022, about 49 people in the world with HNRNPH2-related neurodevelopmental disorder have been described in medical research.

Support Resources

Simons Searchlight Community – HNRNPH2 Facebook group
Yellow Brick Road Project Foundation Website – YellowBrickRoadProject.org
Yellow Brick Road Project Facebook– Facebook page
Yellow Brick Road Project Twitter – Twitter page
HNRNP-Related Parent Connect – Facebook group

Research Article Summaries

Below, we have summarized research articles about changes in the HNRNPH2 gene. We hope you find this information helpful. The information available about HNRNPH2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 HNRNPH2 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females Original research article by J.M. Bain et al. (2016) Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HNRNPH2 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.