GRM7 gene mutations and consequences for neurodevelopment

Pharmacol Biochem Behav. 2023 Apr:225:173546. doi: 10.1016/j.pbb.2023.173546. Epub 2023 Mar 30.

Abstract

The metabotropic glutamate receptor 7 (mGlu7), encoded by the GRM7 gene in humans, is a presynaptic, G protein-coupled glutamate receptor that is essential for modulating neurotransmission. Mutations in or reduced expression of GRM7 have been identified in different genetic neurodevelopmental disorders (NDDs), and rare biallelic missense variants have been proposed to underlie a subset of NDDs. Clinical GRM7 variants have been associated with a range of symptoms consistent with neurodevelopmental molecular features, including hypomyelination, brain atrophy and defects in axon outgrowth. Here, we review the newest findings regarding the cellular and molecular defects caused by GRM7 variants in NDD patients.

Keywords: GRM7 variants; Hypomyelination; NDDs; Neuronal developmental impairment; mGlu(7).

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Humans
  • Mutation
  • Receptors, Metabotropic Glutamate* / genetics
  • Receptors, Metabotropic Glutamate* / metabolism

Substances

  • metabotropic glutamate receptor 7
  • Receptors, Metabotropic Glutamate