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

Vandeweyer, Geert; Van der Aa, Nathalie; Ceulemans, Berten; van Bon, Bregje W.M.; Rooms, Liesbeth; Kooy, R. Frank

doi:10.1016/j.eplepsyres.2011.12.009

« PreviousEpilepsy Research
Volume 99, Issue 3 , Pages 346-349, May 2012

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

Geert Vandeweyer
- Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium
Nathalie Van der Aa
- Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium
Berten Ceulemans
- Department of Neurology-Child Neurology, University Hospital Antwerp, Edegem, Belgium
Bregje W.M. van Bon
- Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Liesbeth Rooms
- Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium
R. Frank Kooy
- Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium
- Corresponding author at: Department of Medical Genetics, Prins Boudewijnlaan 43, B-2650 Edegem, Belgium. Tel.: +32 3 275 97 60.

Received 19 August 2011; received in revised form 16 November 2011; accepted 13 December 2011. published online 16 January 2012.

Summary

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.

Keywords: West Syndrome, Infantile spasms, t(2 ;6)(p15 ;p22.3), BX118339, lnc-RNA