GRIN2B

Several dozen mutations in the GRIN2B gene have been found to cause GRIN2B-related neurodevelopmental disorder, which is characterized by intellectual disability and delayed development of speech and motor skills. Other neurological problems that commonly occur in this disorder include seizures, weak muscle tone (hypotonia), movement disorders, and behavioral problems.

Many GRIN2B 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 reduce receptor activity in cells. Other mutations lead to the 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 GRIN2B-related neurodevelopmental disorder.

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