Format

Send to

Choose Destination
See comment in PubMed Commons below
Epilepsy Res. 2012 May;99(3):346-9. doi: 10.1016/j.eplepsyres.2011.12.009. Epub 2012 Jan 13.

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

Author information

1
Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium.

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.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center