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Article

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.

Scientific reports - 19 Jan 2016

Wenger Tara L, Kao Charlly, McDonald-McGinn Donna M, Zackai Elaine H, Bailey Alice, Schultz Robert T, Morrow Bernice E, Emanuel Beverly S, Hakonarson Hakon

Abstract excerpt

While abnormal signaling mediated through metabotropic glutamate receptor 5 (mGluR5) is involved in the pathophysiology of Autism Spectrum Disorder (ASD), Fragile X Syndrome and Tuberous Sclerosis, the role of other mGluRs and their associated signaling network genes in syndromic ASD is unknown. This study sought to determine whether mGluR Copy Number Variants (CNV's) were overrepresented in children with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

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Share to Receptors, Metabotropic Glutamate

Source

Open in PubMed Open full text

Identifiers

PMID: 26781481
DOI: 10.1038/srep19372
PMCID: PMC4726047

Genes

RANBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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