GRIN2B-related neurodevelopmental disorder explained

GRIN2B-related neurodevelopmental disorder
Synonyms:	GRIM2B-associated disorder
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
Risk:	-->
Diagnosis:	Genetic testing and physical examination
Prevention:	None
Management:	-->
Prognosis:	Medium
Frequency:	Rare, only 100 cases have been described in medical literature
Deaths:	-

GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder which is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.^[1]

Signs and symptoms

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:

• Visual impairment
• Dystonia
• Dyskinesia
• Other choreiform movement disorder

Causes

This condition is caused by mutations in the GRIN2B gene, located in chromosome 12.^[4]

This gene makes instructions into 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.^[5]

Epidemiology

Around 100 cases have been described in medical literature.^[6]

Notes and References

1. Web site: Philadelphia . The Children's Hospital of . 2020-05-19 . GRIN2B-Related Disorders . 2022-07-01 . www.chop.edu . en . 2021-12-14 . https://web.archive.org/web/20211214063807/https://www.chop.edu/conditions-diseases/grin2b-related-disorders . live .
2. Web site: GRIN2B related syndrome . 2022-07-01 . NORD (National Organization for Rare Disorders) . en-US . 2022-05-13 . https://web.archive.org/web/20220513131836/https://rarediseases.org/gard-rare-disease/grin2b-related-syndrome/ . live .
3. Web site: GRIN2B-related neurodevelopmental disorder: MedlinePlus Genetics . 2022-07-01 . medlineplus.gov . en . 2021-10-23 . https://web.archive.org/web/20211023001247/https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/ . live .
4. Web site: Pruebas genéticas - Alteración del desarrollo neurológico asociado con GRIN2B (GRIN2B-related neurodevelopmental disorder) – Gen GRIN2B. - IVAMI . 2022-07-01 . www.ivami.com . 2022-07-01 . 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 . live .
5. Web site: GRIN2B gene: MedlinePlus Genetics . 2022-07-01 . medlineplus.gov . en . 2021-04-22 . https://web.archive.org/web/20210422222703/https://medlineplus.gov/genetics/gene/grin2b/ . live .
6. Web site: GRIN2B-Related Neurodevelopmental Disorder . 2022-07-01 . encyclopedia.pub . en . 2022-07-01 . https://web.archive.org/web/20220701210049/https://encyclopedia.pub/entry/3954 . live .