Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appearance. Issue 6 (1st May 2013)

• Record Type: Journal Article
• Authors: Philippe, Anne; Malan, Valérie; Jacquemont, Marie‐Line; Boddaert, Nathalie; Bonnefont, Jean‐Paul; Odent, Sylvie; Munnich, Arnold; Colleaux, Laurence; Cormier‐Daire, Valérie
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1370
• Page End: 1375
• Publication Date: 2013-05-01
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35307
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35307-sec-0001" sec-type="section"> <p>We report here on two patients with Xq25 duplication encompassing <italic>GRIA3</italic> 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 <italic>GRIA3</italic> 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 <italic>GRIA3</italic> gene, a potential contribution of the duplication of <italic>STAG2</italic> (Stromal Antigen 2) gene coding for the subunit SA1 of the cohesin complex in the clinical phenotype. © 2012 Wiley Periodicals, Inc.</p> </sec> </abstract>