title: Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
abstract: The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.
authors.affiliation: Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark.
authors.forename: Litu
authors.initials: L
authors.lastname: Zhang
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Kjeld
authors.initials: K
authors.lastname: Møllgård
authors.forename: Gotthold
authors.initials: G
authors.lastname: Barbi
authors.forename: Eva
authors.initials: E
authors.lastname: Rossier
authors.forename: Eske
authors.initials: E
authors.lastname: Bendsen
authors.forename: Rikke Steensbjerre
authors.initials: RS
authors.lastname: Møller
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Jian
authors.initials: J
authors.lastname: He
authors.forename: Nickolas
authors.initials: N
authors.lastname: Papadopoulos
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Lars Allan
authors.initials: LA
authors.lastname: Larsen
mesh_terms: D000328:Adult; D000818:Animals; D001921:Brain / Q000196:embryology / Q000378:metabolism; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D006321:Heart / Q000196:embryology; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051379:Mice; D009206:Myocardium / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D014178:Translocation, Genetic
chemical_list: D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C082222:RUNX1T1 protein, human; D014157:Transcription Factors