GRIN2B-related neurodevelopmental disorder
| GRIN2B-related neurodevelopmental disorder | |
|---|---|
| Other names | GRIM2B-associated disorder |
| 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 |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Diagnostic method | Genetic testing and physical examination |
| Prevention | None |
| Prognosis | Medium |
| Frequency | Rare, only 100 cases have been described in medical literature |
| Deaths | - |
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.[1]
Signs and symptoms
[edit]The following list comprises most of the symptoms people with GRIN2B show:[2][3]
- Intellectual disability (mild to severe)
- Developmental delay (mild to severe)
- Hypotonia
- Epilepsy
- Autism spectrum disorder
- Autistic-like behavior
- Microcephaly
- Hyperactivity
- Stereotypy
- Spasticity
- Feeding difficulties
Less common symptoms include:[4]
- Visual impairment
- Dystonia
- Dyskinesia
- Other choreiform movement disorder
Causes
[edit]This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.[5]
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.[6]
Epidemiology
[edit]Around 100 cases have been described in medical literature.[7]
References
[edit]- ^ Philadelphia, The Children's Hospital of (2020-05-19). "GRIN2B-Related Disorders". www.chop.edu. Archived from the original on 2021-12-14. Retrieved 2022-07-01.
- ^ "GRIN2B related syndrome". NORD (National Organization for Rare Disorders). Archived from the original on 2022-05-13. Retrieved 2022-07-01.
- ^ "GRIN2B-related neurodevelopmental disorder: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 2021-10-23. Retrieved 2022-07-01.
- ^ Platzer, Konrad; Lemke, Johannes R. (1993), Adam, Margaret P.; Mirzaa, Ghayda M.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "GRIN2B-Related Neurodevelopmental Disorder", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 29851452, archived from the original on 2022-01-20, retrieved 2022-07-01
- ^ "Pruebas genéticas - Alteración del desarrollo neurológico asociado con GRIN2B (GRIN2B-related neurodevelopmental disorder) – Gen GRIN2B. - IVAMI". www.ivami.com. Archived from the original on 2022-07-01. Retrieved 2022-07-01.
- ^ "GRIN2B gene: MedlinePlus Genetics". medlineplus.gov. Archived from the original on 2021-04-22. Retrieved 2022-07-01.
- ^ "GRIN2B-Related Neurodevelopmental Disorder". encyclopedia.pub. Archived from the original on 2022-07-01. Retrieved 2022-07-01.