Publication
Title
A **de novo** balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA
Author
Abstract
In a male patient with West Syndrome we identified a perfectly balanced, de novo balanced translocation 46,XY,t(2;6)(p15;p22.3). No known protein coding genes were disrupted by the translocation and positional effects on nearby genes were excluded by expression studies. A putative long non-coding RNA, BX118339, spans the breakpoint on chromosome 6. It can be hypothesized that disruption of this non-coding transcript plays a role in the pathogenesis of the patient. (C) 2011 Elsevier B.V. All rights reserved.
Language
English
Source (journal)
Epilepsy research. - Amsterdam
Publication
Amsterdam : 2012
ISSN
0920-1211
Volume/pages
99:3(2012), p. 346-349
ISI
000304510200018
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.07.2012
Last edited 09.07.2017
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