GRIN2B

Below is a summary for the GRIN2B 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.

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 GRIN2B-related syndrome?

GRIN2B-related syndrome happens when there are changes to the GRIN2B gene. These changes can keep the gene from working as it should.

Key Role

The GRIN2B gene plays a key role in communication among brain cells.

Symptoms

Because the GRIN2B gene is important in brain activity, many people who have GRIN2B-related syndrome have:

Intellectual disability
Autism spectrum disorder
Seizures

Do people who have GRIN2B-related syndrome look different?

Most people who have GRIN2B-related syndrome do not look very different from others.

Learning

Most people have some level of intellectual disability:

60% Severe intellectual disability

25% Moderate intellectual disability

15% Mild intellectual disability

Behavior

About one-quarter of people have signs of autism.

Brain

About one-half have seizures.

Support Resources

Simons Searchlight Community – GRIN2B Facebook group
GRIN2B Foundation Website – GRIN2B.com GRIN2B Foundation – Facebook page GRIN2B Foundation – Twitter
CureGRIN Foundation Website – CureGRIN.org – CureGRIN Foundation – Facebook group – CureGRIN Foundation – Twitter
Unique – GRIN2B Guidebook
Geisinger Developmental Brain Disorder Gene Database – GRIN2B

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. Check out the GeneReviews for GRIN2B.

Presentations

Presentations Included:

“GRIN2B: What We Know” by Dr. Wendy Chung
“Problem Behaviors” by Barbara Haas-Givler, MEd, BCBA
Q & A Session

Research Article Summaries

Below, we have summarized research articles about changes in the GRIN2B gene. We hope you find this information helpful. The information available about GRIN2B 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 GRIN2B articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Chromosome 12p deletion spanning the GRIN2B gene presenting with a neurodevelopmental phenotype: A case report and review of literature Original research article by N. Mishra et al. (2016) Read the abstract here and the Simons Searchlight summary here.
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders Original research article by E.M. Kenny et al. (2014) Read the article here and the Simons Searchlight summary here.
Behavioral phenotype in five people with de novo mutations within the GRIN2B gene Original research article by I. Freunscht et al. (2013) Read the article here and the Simons Searchlight summary here.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy Original research article by J.R. Lemke et al. (2014) Read the abstract here and the Simons Searchlight summary here.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders Original research article by B.J. O’Roak et al. (2012). Read the abstract here and the Simons Searchlight summary here.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Original research article by B.J. O’Roak et al. (2012). Read the abstract here and the Simons Searchlight summary here.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes Original research article by S. Endele et al. (2010) Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about GRIN2B genetic changes by taking part in our research. You can learn more about the project and sign up here.
TIGER Study The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in GRIN2B. Click here to learn more about this opportunity.

Family Stories

Stories from GRIN2B families:

Click here to share your family’s story!

Previous Registry Reports