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

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• 作者：Geert Vandeweyer^a ; Nathalie Van der Aa^a ; Berten Ceulemans^b ; Bregje W.M. van Bon^c ; Liesbeth Rooms^a ; R. Frank Kooy^a ; ^{frank.kooy@ua.ac.be}
• 关键词：West Syndrome ; Infantile spasms ; t(2 ; 6)(p15 ; p22.3) ; BX118339 ; lnc-RNA
• 刊名：Epilepsy Research
• 出版年：2012
• 出版时间：May, 2012
• 年：2012
• 卷：99
• 期：3
• 页码：346-349
• 全文大小：333 K

文摘

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Summary

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.