Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Issue 9 (30th June 2015)

• Record Type: Journal Article
• Authors: Addis, Laura; Ahn, Joo Wook; Dobson, Richard; Dixit, Abhishek; Ogilvie, Caroline M; Pinto, Dalila; Vaags, Andrea K; Coon, Hilary; Chaste, Pauline; Wilson, Scott; Parr, Jeremy R; Andrieux, Joris; Lenne, Bruno; Tumer, Zeynep; Leuzzi, Vincenzo; Aubell, Kristina; Koillinen, Hannele; Curran, Sarah; Marshall, Christian R; Scherer, Stephen W; Strug, Lisa J; Collier, David A; Pal, Deb K
• Is Part Of: Human mutation. Volume 36:Issue 9(2015:Sep.)
• Page Start: 842
• Page End: 850
• Publication Date: 2015-06-30
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22816
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22816-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We have identified a significant excess (<italic>p</italic> = 7.5 × 10⁻³) of small deletions (shown as red lines on the figure) at the <italic>PAX6‐ELP4</italic> locus, 11p13, in three cohorts of patients with neurodevelopmental disorders. The deletions predispose to a range of phenotypes including autism spectrum disorder, language impairment, mental retardation and epilepsy, and likely disrupt the functions of the Elongator protein complex and/or the transcription factor PAX6. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2f6z6x93" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>