| Title |
|
|
|
A **de novo** balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA
|
|
| Author |
|
|
|
|
|
| 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. (C) 2011 Elsevier B.V. All rights reserved. | |
|
| Language |
|
|
|
English
|
|
| Source (journal) |
|
|
|
Epilepsy research. - Amsterdam |
|
| Publication |
|
|
|
Amsterdam : 2012
|
|
| ISSN |
|
|
|
0920-1211
|
|
| Volume/pages |
|
|
|
99:3(2012), p. 346-349
|
|
| ISI |
|
|
|
000304510200018
|
|
| Full text (Publishers DOI) |
|
|
| |
|
| Full text (publishers version - intranet only) |
|
|
| |
|