Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes. Issue 1 (10th November 2013)

• Record Type: Journal Article
• Authors: Qiao, Ying; Mondal, Kajari; Trapani, Valentina; Wen, Jiadi; Carpenter, Gillian; Wildin, Robert; Price, E. Magda; Gibbons, Richard J.; Eichmeyer, Jennifer; Jiang, Ruby; DuPont, Barbara; Martell, Sally; Lewis, Suzanne M. E.; Robinson, Wendy P.; O'Driscoll, Mark; Wolf, Federica I.; Zwick, Michael E.; Rajcan‐Separovic, Evica
• Is Part Of: Human mutation. Volume 35:Issue 1(2014:Jan.)
• Page Start: 58
• Page End: 62
• Publication Date: 2013-11-10
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22465
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22465-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>A 0.8kb intronic duplication in <italic>MAGT1</italic> and a single base pair deletion in the last exon of <italic>ATRX</italic> were identified in a family with 5 males demonstrating intellectual disability (ID) and unusual skin findings. Dysfunction of MAGT1 and ATRX was detected using a panel of tests and indicates the role of <italic>ATRX</italic> mutation in ID and <italic>MAGT1</italic> disruption in abnormal skin findings. This work emphasizes the importance of correlating clinical phenotype with genomic and cell function analyses to explain the phenotypic variability of syndromic ID. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3zsp6nms" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>