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Article

N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.

American journal of medical genetics. Part A - 1 Feb 2022

Charron Jacob G, Hernandez Angel, Bilinovich Stephanie M, Vogt Daniel L, Bedinger Laura A, Seaver Laurie H, Williams Michael, Devries Seth, Campbell Daniel B, Bupp Caleb P, Prokop Jeremy W

Abstract excerpt

Predicting genotype-to-phenotype correlations from genomic variants has been challenging, particularly for genes that have a complex balance of dominant and recessive inheritance for phenotypes. Variants in NMDA receptor components GRIN1, GRIN2A, and GRIN2B cause a myriad of dominant disease phenotypes, with the most common being epilepsy and autism spectrum disorder. Starting from the analysis of a variant of...

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Identifiers

PMID: 34726335
DOI: 10.1002/ajmg.a.62554
PMCID: PMC10472328

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