The following two papers are currently the most directly relevant papers discussing GRIN2B for parents to read. CAUTION – These research papers contain a lot of hard-to-understand, scientific terms and can be overwhelming to read immediately after an initial diagnosis.
- “Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable phenotype disorders”, November 2010, by Sabine Endele, et al.
This article is not available online. You can follow the link and purchase the article for $32.99. Or, you should be able to contact your child’s Doctor or Heather Rocha, Genetic Counselor at Simon’s VIP Connect to ask if they have access to this article.
- “Behavioral phenotype in 5 individuals with de novo mutations within the GRIN2B gene” May 2013, by Inga Freunscht, et al
Additional relevant articles available for free online:
- “Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains” December 2016, by Sharon A. Swanger, et al
- “Human GRIN2B variants in neurodevelopmental disorders” October 2016, by Chun Hu, et al
- “Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature” April 2016, by Navin Mishra, MD, et al
- “Gene Mutation Linked to Persistent ADHD” March 2016, by Liam Davenport
- “GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy” January 2014, by Johannes Lemke, et al
For a Summary of additional papers, please check out Simon’s VIP Connect’s GRIN2B page. If you click on the links for these articles, you will see that you are only able to view an abstract. If you wish to read the full article, you will need to contact a doctor for access.
Please also check the Files section of the GRIN2B Parent Support group for additional papers that are not available online.
The non-profit, Unique, Understanding Chromosome Disorders, has created a guide to understanding GRIN2B based on input from doctors and several parents. Follow the link, and scroll down to Chromosome 12 to find the printable guide for GRIN2B.
Dutch website about GRIN2B – you can use Google Translate to read it.
CURRENT RESEARCH INITIATIVES
Simon’s VIP Connect
The Simons Variation in Individuals Project – Simons VIP – is an online community that supports families with rare genetic changes (also called “genomic variants”) associated with features of autism and developmental delay. They provide access to resources, information, and family support. Simons VIP also provides an opportunity for families to participate in research. GRIN2B is one of the many genetic changes they are studying.
Center for Functional Evaluation of Rare Variants (CFERV), Emory University
CFERV is a NIH-funded program to provide functional data for GRIN mutations. Led by Dr. Steve Traynelis, they are able to perform the functional analysis* to determine if a GRIN2B mutation is a gain-of-function or loss-of-function.
*Please note – the results of the functional analysis to determine if a mutation is a gain-of-function or loss-of-function can take up to six months. We also want you to be aware that the results may be written in a scientific manner and, unless you are quite knowledgeable of genetics, you may not understand what it means. We are working on a way to help families interpret these complicated results. In the meantime, we suggest you seek help from your team of doctors to help understand the results.
The Tiger Study at University of Washington’s Autism Center
The University of Washington’s Autism Center in Seattle, Washington (USA) is performing a study to better understand the medical, learning and behavioral features of individuals with changes in GRIN2B, called the TIGER Study. This study is only being done on children over the age of 4 through December 2020. Please email Morgan Kelly for more details.