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<span>GRIN2B-related neurodevelopmental disorder</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/</span>
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<h1>GRIN2B-related neurodevelopmental disorder</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p><em><a data-pid="19977" href="https://medlineplus.gov/genetics/gene/grin2b/">GRIN2B</a></em>-related neurodevelopmental disorder is a condition that affects the nervous system. Neurodevelopmental disorders result from impaired growth and development of the central nervous system, which includes the brain and spinal cord, and the nerves connecting them. These disorders often affect learning ability, memory, and behavior and can be associated with other neurological problems.</p><p>Individuals with <em>GRIN2B</em>-related neurodevelopmental disorder have mild to profound intellectual disability and delayed development of speech and motor skills, such as sitting and walking. Some affected individuals never develop speech or the ability to walk on their own. Many people with this condition have weak muscle tone (hypotonia), which can contribute to the problems developing motor skills and lead to difficulty eating. Some affected individuals have abnormal muscle stiffness (spasticity), which can also cause problems with movement.</p><p>Recurrent seizures (epilepsy) occur in about half of people with <em>GRIN2B</em>-related neurodevelopmental disorder. About one-quarter of affected individuals have features of <a data-pid="16743" href="https://medlineplus.gov/genetics/condition/autism-spectrum-disorder/">autism spectrum disorder</a>, which is characterized by impaired communication and social interaction. Affected individuals may also be hyperactive, impulsive, or easily distractible, and some are described as being overly friendly. Sleeping difficulties can also occur in this condition.</p><p>Less common features of <em>GRIN2B</em>-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_3" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>), impaired vision, and involuntary muscle movements.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>The prevalence of <i><a data-pid="19977" href="https://medlineplus.gov/genetics/gene/grin2b/">GRIN2B</a></i>-related neurodevelopmental disorder is unknown. Fewer than 100 cases have been reported in the medical literature.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p><i><a data-pid="19977" href="https://medlineplus.gov/genetics/gene/grin2b/">GRIN2B</a></i>-related neurodevelopmental disorder is caused by mutations in a gene called <i>GRIN2B</i>. This gene provides instructions for making a protein called GluN2B, which is found in nerve cells (<a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-caption="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-credit="Eunice Kennedy Shriver National Institute of Child Health and Human Development" data-filepath="images/PX0003IN_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003IN" data-sourceurl="https://www.nichd.nih.gov/health/topics/neuro/conditioninfo/parts" data-title="Nerve cell (neuron)" href="https://medlineplus.gov/images/PX0003IN_PRESENTATION.jpeg" id="PX0003IN_2" title="Show image">neurons<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) in the brain primarily during development before birth. This protein is a part of specialized protein structures called NMDA receptors, which are involved in normal brain development, changes in the brain in response to experience (synaptic plasticity), learning, and memory.</p><p>Some <i>GRIN2B</i> gene mutations lead to production of a nonfunctional GluN2B protein or prevent the production of any GluN2B protein from one copy of the gene in each cell. A shortage of this protein may reduce the number of functional NMDA receptors, which would decrease receptor activity in cells. Other mutations lead to production of abnormal GluN2B proteins that likely alter how the NMDA receptors function; some mutations reduce NMDA receptor signaling while others increase it. Researchers are unsure how abnormal activity of NMDA receptors prevents normal growth and development of the brain or why too much or too little activity lead to similar neurological problems in people with <i>GRIN2B</i>-related neurodevelopmental disorder.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with GRIN2B-related neurodevelopmental disorder</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/grin2b/">GRIN2B</a></li>
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</ul>
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</section>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
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" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder.</p><p>Most cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These cases occur in people with no history of the disorder in their family.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>EIEE27</li> <li>Epileptic encephalopathy, early infantile, 27</li> <li>GRIN2B encephalopathy</li> <li>GRIN2B related syndrome</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4015316/" target="TheNewWin">Genetic Testing Registry: Developmental and epileptic encephalopathy, 27</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C3151411/" target="TheNewWin">Genetic Testing Registry: Intellectual disability, autosomal dominant 6</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/616139" target="TheNewWin">DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27; DEE27</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/613970" target="TheNewWin">INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28GRIN2B%5BTIAB%5D%29+AND+%28%28encephalopathy%29+OR+%28neurodevelopment%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Bell S, Maussion G, Jefri M, Peng H, Theroux JF, Silveira H, Soubannier V, Wu
|
||
H, Hu P, Galat E, Torres-Platas SG, Boudreau-Pinsonneault C, O'Leary LA, Galat V,
|
||
Turecki G, Durcan TM, Fon EA, Mechawar N, Ernst C. Disruption of GRIN2B Impairs
|
||
Differentiation in Human Neurons. Stem Cell Reports. 2018 Jul 10;11(1):183-196.
|
||
doi: 10.1016/j.stemcr.2018.05.018. Epub 2018 Jun 21. <a href="https://pubmed.ncbi.nlm.nih.gov/29937144" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6067152/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG. Disease-associated
|
||
missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion
|
||
channel properties. Nat Commun. 2018 Mar 6;9(1):957. doi:
|
||
10.1038/s41467-018-02927-4. <a href="https://pubmed.ncbi.nlm.nih.gov/29511171" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5840332/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A,
|
||
Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D. Behavioral phenotype in five
|
||
individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct.
|
||
2013 May 29;9:20. doi: 10.1186/1744-9081-9-20. <a href="https://pubmed.ncbi.nlm.nih.gov/23718928" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3685602/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants in
|
||
neurodevelopmental disorders. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi:
|
||
10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19. Erratum In: J Pharmacol Sci. 2017
|
||
Apr;133(4):280. doi: 10.1016/j.jphs.2017.04.001. <a href="https://pubmed.ncbi.nlm.nih.gov/27818011" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125235/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Platzer K, Lemke JR. GRIN2B-Related Neurodevelopmental Disorder. 2018
|
||
May 31 [updated 2021 Mar 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,
|
||
Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
|
||
University of Washington, Seattle; 1993-2025. Available from
|
||
http://www.ncbi.nlm.nih.gov/books/NBK501979/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/29851452" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO,
|
||
Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot
|
||
C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir
|
||
AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt
|
||
JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I,
|
||
Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson
|
||
JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi
|
||
T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA,
|
||
Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz
|
||
DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF,
|
||
Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant
|
||
clustering, functional consequences and treatment aspects. J Med Genet. 2017
|
||
Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. <a href="https://pubmed.ncbi.nlm.nih.gov/28377535" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL,
|
||
Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF,
|
||
Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in
|
||
the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet. 2016 Dec
|
||
1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10. <a href="https://pubmed.ncbi.nlm.nih.gov/27839871" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142120/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
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