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GRIN2B

The information for this summary of GRIN2B-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full GRIN2B Gene Guide

The online Gene Guide includes more information about GRIN2B such as the chance of having another child with this condition, behavior and development concerns linked to GRIN2B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

GRIN2B-related syndrome is also called GRIN2B-related neurodevelopmental disorder, developmental and epileptic encephalopathy 27, and intellectual developmental disorder, autosomal dominant 6, with or without seizures. For this webpage, we will be using the name GRIN2B-related syndrome to encompass the wide range of variants observed in the people identified.

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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. The GRIN2B gene makes part of the NMDA receptor. The gene is called GRIN2B, and the protein that makes up part of the NMDA receptor is called GluN2B.

Symptoms

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

  • Intellectual disability
  • Global developmental delay
  • Speech delay or absent speech
  • Sleep disruption
  • Seizures
  • Delayed walking
  • Abnormal movements
  • Autism
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Lower than average muscle tone

How many people have GRIN2B-related syndrome?

As of 2024, at least 295 people with GRIN2B-related syndrome have been identified in a medical clinic. The first case of GRIN2B-related syndrome was described in 2010.

Learn more about the GRIN2B gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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 .

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Presentations

Presentations Included:
  • “GRIN2B: What We Know” by Dr. Wendy Chung
  • “Problem Behaviors” by Barbara Haas-Givler, MEd, BCBA
  • Q & A Session
By clicking to watch this video, you agree to our privacy policy.
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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.
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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.
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Family Stories

Stories from  GRIN2B  families:

Click here to share your family’s story!

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Previous Quarterly Reports