Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome. Issue 9 (8th July 2014)

• Record Type: Journal Article
• Authors: Schanze, Denny; Neubauer, Dorothée; Cormier‐Daire, Valerie; Delrue, Marie‐Ange; Dieux‐Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E.; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C.; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul C.M.; Zenker, Martin
• Is Part Of: Human mutation. Volume 35:Issue 9(2014:Sep.)
• Page Start: 1092
• Page End: 1100
• Publication Date: 2014-07-08
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22603
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22603-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This study demonstrates that Marshall‐Smith syndrome is consistently caused by de novo NFIX mutations. It is presented for the first time that exon deletions including a recurrent AluY‐mediated exon 6 and 7 deletion account for roughly a quarter of cases. MSS‐associated mutations lead to mutant proteins with intact DNA‐binding and dimerization domains(DNAbd, MH1), while they have various alterations of their transcriptional transactivation/repression domains (CTF/NFI). Thereby they are presumed to exert dominant negative effects. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh11pnsbhc" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>