GRIN2B-related neurodevelopmental disorder
{{Infobox medical condition
|name = GRIN2B-related neurodevelopmental disorder
|synonyms = GRIM2B-associated disorder
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|specialty = Medical genetics, Pediatry, Neurology
|symptoms = Mainly developmental delays, intellectual disabilities, craniofacial dysmorphisms, behavioural problems and muscle tone anomalies
|complications = Learning disability, communication delay, social ineption
|onset = Birth
|duration = Lifelong
|types =
|causes = Genetic mutation
|risks =
|diagnosis = Genetic testing and physical examination
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|prevention = None
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|prognosis = Medium
|frequency = Rare, only 100 cases have been described in medical literature
|deaths = -
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GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder that is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.{{Cite web |last=Philadelphia |first=The Children's Hospital of |date=2020-05-19 |title=GRIN2B-Related Disorders |url=https://www.chop.edu/conditions-diseases/grin2b-related-disorders |access-date=2022-07-01 |website=www.chop.edu |language=en |archive-date=2021-12-14 |archive-url=https://web.archive.org/web/20211214063807/https://www.chop.edu/conditions-diseases/grin2b-related-disorders |url-status=live }}
Signs and symptoms
The following list comprises most of the symptoms people with GRIN2B show:{{Cite web |title=GRIN2B related syndrome |url=https://rarediseases.org/gard-rare-disease/grin2b-related-syndrome/ |access-date=2022-07-01 |website=NORD (National Organization for Rare Disorders) |language=en-US |archive-date=2022-05-13 |archive-url=https://web.archive.org/web/20220513131836/https://rarediseases.org/gard-rare-disease/grin2b-related-syndrome/ |url-status=live }}{{Cite web |title=GRIN2B-related neurodevelopmental disorder: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/ |access-date=2022-07-01 |website=medlineplus.gov |language=en |archive-date=2021-10-23 |archive-url=https://web.archive.org/web/20211023001247/https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/ |url-status=live }}
- Intellectual disability (mild to severe)
- Developmental delay (mild to severe)
- Hypotonia
- Epilepsy
- Autism spectrum disorder
- Autistic-like behavior
- Microcephaly
- Hyperactivity
- Stereotypy
- Spasticity
- Feeding difficulties
- Visual impairment
- Dystonia
- Dyskinesia
- Other choreiform movement disorder
Causes
This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.{{Cite web |title=Pruebas genéticas - Alteración del desarrollo neurológico asociado con GRIN2B (GRIN2B-related neurodevelopmental disorder) – Gen GRIN2B. - IVAMI |url=https://www.ivami.com/es/pruebas-geneticas-mutaciones-de-genes-humanos-enfermedades-neoplasias-y-farmacogenetica/5780-pruebas-geneticas-alteracion-del-desarrollo-neurologico-asociado-con-grin2b-grin2b-related-neurodevelopmental-disorder-gen-grin2b |access-date=2022-07-01 |website=www.ivami.com |archive-date=2022-07-01 |archive-url=https://web.archive.org/web/20220701210046/https://www.ivami.com/es/pruebas-geneticas-mutaciones-de-genes-humanos-enfermedades-neoplasias-y-farmacogenetica/5780-pruebas-geneticas-alteracion-del-desarrollo-neurologico-asociado-con-grin2b-grin2b-related-neurodevelopmental-disorder-gen-grin2b |url-status=live }}
This gene instructs how to make a protein called GluN2B, a type of NMDA receptor, which is found in brain neurons during ante-natal brain development. It is involved in correct brain development and function, regulating memory, synaptic plasticity and the ability of learning.{{Cite web |title=GRIN2B gene: MedlinePlus Genetics |url=https://medlineplus.gov/genetics/gene/grin2b/ |access-date=2022-07-01 |website=medlineplus.gov |language=en |archive-date=2021-04-22 |archive-url=https://web.archive.org/web/20210422222703/https://medlineplus.gov/genetics/gene/grin2b/ |url-status=live }}
Epidemiology
Around 100 cases have been described in medical literature.{{Cite web |title=GRIN2B-Related Neurodevelopmental Disorder |url=https://encyclopedia.pub/entry/3954 |access-date=2022-07-01 |website=encyclopedia.pub |language=en |archive-date=2022-07-01 |archive-url=https://web.archive.org/web/20220701210049/https://encyclopedia.pub/entry/3954 |url-status=live }}