title: A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.
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.
authors.affiliation: Department of Medical Genetics, University of and University Hospital of Antwerp, Antwerp, Belgium.
authors.forename: Geert
authors.initials: G
authors.lastname: Vandeweyer
authors.forename: Nathalie
authors.initials: N
authors.lastname: Van der Aa
authors.forename: Berten
authors.initials: B
authors.lastname: Ceulemans
authors.forename: Bregje W M
authors.initials: BW
authors.lastname: van Bon
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D062085:RNA, Long Noncoding / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D062085:RNA, Long Noncoding; C568370:linc-md1 long noncoding RNA, human