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

Epilepsy Res. 2012 May;99(3):346-9. doi: 10.1016/j.eplepsyres.2011.12.009. Epub 2012 Jan 13.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosomes, Human, Pair 2 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Humans
  • Infant
  • Male
  • RNA, Long Noncoding / genetics*
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / genetics*
  • Translocation, Genetic / genetics*


  • RNA, Long Noncoding
  • linc-md1 long noncoding RNA, human