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Article

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

American journal of medical genetics. Part A - 1 Jun 2013

Philippe Anne, Malan Valérie, Jacquemont Marie-Line, Boddaert Nathalie, Bonnefont Jean-Paul, Odent Sylvie, Munnich Arnold, Colleaux Laurence, Cormier-Daire Valérie

Abstract excerpt

We report here on two patients with Xq25 duplication encompassing GRIA3 gene, encoding glutamate receptor, ionotropic, AMPA subunit 3. The first case of Xq25 duplication was identified using genome-wide array comparative genomic hybridization (array-CGH) in a 24-year-old patient with syndromic intellectual disability. Based on similar facial features, we clinically suspected a second case of Xq25 duplication in a...

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Share to Antigens, Nuclear
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, X-Linked

Share to Multiplex Polymerase Chain Reaction

Share to Receptors, AMPA

Share to Sex Chromosome Aberrations

Share to Trisomy

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 23637084
DOI: 10.1002/ajmg.a.35307

Genes

GRIA3
STAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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