Neurodevelopmental disorders associated with variants of GRIN gene family
10.3760/cma.j.cn511374-20210311-00212
- VernacularTitle:GRIN基因家族变异相关的神经发育障碍
- Author:
Xinyi JIANG
1
;
Xinran DONG
;
Wenhao ZHOU
Author Information
1. 上海市出生缺陷防治重点实验室，国家卫生健康委员会新生儿疾病重点实验室，国家儿童医学中心，复旦大学附属儿科医院新生儿科，上海 201102
- Keywords:
N-methyl-D-aspartate receptor;
GRIN gene;
Neurodevelopmental disorders
- From:
Chinese Journal of Medical Genetics
2022;39(7):783-787
- CountryChina
- Language:Chinese
-
Abstract:
With the development of gene sequencing, a variety of mutations have been identified in the GRIN gene family which encode the NMDA receptors. Variants of the GRIN gene have been associated with neurodevelopmental disorders. Analysis of GRIN gene mutations and pharmacological functions of their receptors may reveal molecular mechanism of related diseases, and provide clues for the treatment strategies. This article summarizes the structure and function of the NMDA receptors, in addition with their genotype-phenotype correlation.
