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De Novo Mutations and Rare Variants Occurring in NMDA Receptors.

Curr Opin Physiol. 2018 Apr;2:27-35

Authors: XiangWei W, Jiang Y, Yuan H

A significant number of variants/mutations in the N-methyl-D-aspartate glutamatergic receptor (NMDAR) gene family (GRIN) have been identified along with stunning advances in the technologies of next generation of whole-exome sequencing. Mutations in human GRIN genes are distributed throughout the entire gene, from amino terminal domain to C-terminal domain, in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention deficit hyperactivity disorder, and schizophrenia. Analyzing the currently available human genetic variations illustrates the genetic variation intolerance to missense mutations differs significantly among domains within the GRIN genes. Functional analyses of these mutations and their pharmacological profiles provide the first opportunity to understand the molecular mechanism and targeted therapeutic strategies for these neurological and psychiatric disorders, as well as unfold novel clues to channel function.

PMID: 29756080 [PubMed]

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