A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.

There is no fulltext present in this item.

Title:	A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.
Author(s):	Vandeweyer, G.; Aa, N. van der; Ceulemans, B.; Bon, B.W.M. van ; Rooms, L.; Kooy, R.F.
Publication year:	2012
Source:	Epilepsy Research, vol. 99, iss. 3, (2012), pp. 346-349
ISSN:	0920-1211
DOI:	https://doi.org/10.1016/j.eplepsyres.2011.12.009
Annotation:	1 mei 2012
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/110552
Display more details
Subject:	IGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory
Organization:	Human Genetics
Journal title:	Epilepsy Research
Volume:	vol. 99
Issue:	iss. 3
Page start:	p. 346
Page end:	p. 349
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.