Skip to Main content Skip to Navigation
Journal articles

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

Abstract : 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 4-year-old boy with intellectual disabilty. This duplication was confirmed by multiplex ligation-dependent probe amplification (MLPA) of the GRIA3 gene, as well as by fluorescence in situ hybridization (FISH) and further refined by array-CGH. We suggest that Xq25 duplication is responsible for a novel clinically recognizable X-linked intellectual disability. Finally, the review of so far published Xq25 duplications support, in addition to the role of GRIA3 gene, a potential contribution of the duplication of STAG2 (Stromal Antigen 2) gene coding for the subunit SA1 of the cohesin complex in the clinical phenotype.
Document type :
Journal articles
Complete list of metadatas

https://hal-univ-rennes1.archives-ouvertes.fr/hal-00877108
Contributor : Clémence Martin <>
Submitted on : Saturday, October 26, 2013 - 9:52:59 AM
Last modification on : Wednesday, August 19, 2020 - 11:17:03 AM

Links full text

Identifiers

Citation

Anne Philippe, Valérie Malan, Marie-Line Jacquemont, Nathalie Boddaert, Jean-Paul Bonnefont, et al.. 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, Wiley, 2013, 161 (6), pp.1370-5. ⟨10.1002/ajmg.a.35307⟩. ⟨hal-00877108⟩

Share

Metrics

Record views

436