A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.
until further notice
SourceEpilepsy Research, 99, 3, (2012), pp. 346-349
1 mei 2012
Article / Letter to editor
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SubjectIGMD 3: Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory
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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