Title
A **de novo** balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA A **de novo** balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Amsterdam ,
Subject
Human medicine
Source (journal)
Epilepsy research. - Amsterdam
Volume/pages
99(2012) :3 , p. 346-349
ISSN
0920-1211
ISI
000304510200018
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
E-info
https://repository.uantwerpen.be/docman/iruaauth/0c662f/52e2034.pdf
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