Related Experiment Video
Updated: Feb 10, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
De Novo Mutations and Rare Variants Occurring in NMDA Receptors
Wenshu XiangWei1, Yuwu Jiang1,2, Hongjie Yuan3,4
1Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing 100034, China.
Abstract:
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.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Cognitive Enhancers: Cholinesterase Inhibitors and NMDA Receptor Antagonists
Viral Mutations
Histone Variants at the Centromere
Regulation of Expression Occurs at Multiple Steps
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...

