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

作者：Vandeweyer Geert; Van der Aa Nathalie; Ceulemans Berten; van Bon Bregje W M; Rooms Lie**eth; Kooy R Frank^*

来源：Epilepsy Research, 2012, 99(3): 346-349.

DOI：10.1016/j.eplepsyres.2011.12.009

• West Syndrome
• Infantile spasms
• t(2
• 6)(p15
• p22.3)
• BX118339
• lnc-RNA

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.

• 出版日期2012-5