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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   http://hdl.handle.net/2066/110552

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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.

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