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Mutations

Mutations

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

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Updated: Aug 4, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

GRM7 gene mutations and consequences for neurodevelopment.

Geanne A Freitas¹, Colleen M Niswender²

¹Department of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37212, United States of America.

Pharmacology, Biochemistry, and Behavior

|April 1, 2023

Summary

This summary is machine-generated.

Genetic mutations in the metabotropic glutamate receptor 7 (mGlu7) gene are linked to neurodevelopmental disorders (NDDs). This review highlights cellular and molecular defects caused by mGlu7 variants in NDD patients.

Keywords:

GRM7 variants Hypomyelination NDDs Neuronal developmental impairment mGlu(7)

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Published on: August 8, 2022

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Metabotropic glutamate receptor 7 (mGlu7), encoded by the GRM7 gene, is a presynaptic G protein-coupled receptor crucial for neurotransmission modulation.
Mutations or reduced expression of GRM7 are implicated in various genetic neurodevelopmental disorders (NDDs).
Rare biallelic missense variants in GRM7 have been identified as potential causes for a subset of NDDs.

Purpose of the Study:

To review recent findings on cellular and molecular defects associated with GRM7 variants in patients with neurodevelopmental disorders.
To consolidate current understanding of how GRM7 gene variations impact neurological function.

Main Methods:

Literature review of recent studies on GRM7 gene variants and neurodevelopmental disorders.
Analysis of reported clinical phenotypes and molecular mechanisms linked to GRM7 mutations.
Synthesis of data on cellular and molecular defects caused by GRM7 variants.

Main Results:

GRM7 variants are associated with a spectrum of neurodevelopmental symptoms, including hypomyelination, brain atrophy, and impaired axon outgrowth.
Specific GRM7 variants lead to distinct cellular and molecular dysfunctions impacting neuronal signaling.
The review consolidates evidence linking GRM7 genetic alterations to specific neurodevelopmental pathologies.

Conclusions:

GRM7 variants represent a significant genetic factor contributing to neurodevelopmental disorders.
Understanding the molecular consequences of GRM7 variants is crucial for diagnosing and potentially treating NDDs.
Further research into GRM7's role in neurodevelopment is warranted.