Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Issue 3 (25th February 2015)

• Record Type: Journal Article
• Authors: Marques, Isabel; Sá, Maria João; Soares, Gabriela; Mota, Maria do Céu; Pinheiro, Carla; Aguiar, Lisa; Amado, Marta; Soares, Christina; Calado, Angelina; Dias, Patrícia; Sousa, Ana Berta; Fortuna, Ana Maria; Santos, Rosário; Howell, Katherine B.; Ryan, Monique M.; Leventer, Richard J; Sachdev, Rani; Catford, Rachael; Friend, Kathryn; Mattiske, Tessa R.; Shoubridge, Cheryl; Jorge, Paula
• Is Part Of: Molecular genetics & genomic medicine. Volume 3:Issue 3(2015:May)
• Page Start: 203
• Page End: 214
• Publication Date: 2015-02-25
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.133
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="mgg3133-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Molecular screening of <italic>ARX</italic> gene is frequent in patients with intellectual disability (ID) presenting with infantile epilepsy or movement disorder or brain and genital malformations. Targeted ARX mutation screening (exon 2), followed by sequencing of all coding regions, enabled the diagnosis of ARX‐related disorders in eight patients from six families, presenting with different clinical phenotypes. Data from our study and others lead us to recommend that this targeted screening be done in all patients referred for fragile‐X testing, particularly those with apparent nonsyndromic ID of unknown cause, or in which the "Partington" hand dystonia is recognized. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjn22vj79" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>