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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 473682.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
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
Authors:Zhang, Litu; Tümer, Zeynep; Møllgård, Kjeld; Barbi, Gotthold; Rossier, Eva; Bendsen, Eske; Møller, Rikke Steensbjerre; Ullmann, Reinhard; He, Jian; Papadopoulos, Nickolas; Tommerup, Niels; Larsen, Lars Allan
Date of Publication (YYYY-MM-DD):2009-08
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur J Hum Genet
Issue / Number:8
Start Page:1010
End Page:1018
Copyright:© 2009 European Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:RUNX1T1; MTG8; ETO; Acute myeloid leukemia (AML); Brain development; Heart development
Comment of the Author/Creator:email: larsal@sund.ku.dk
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
Department of Cellular and Molecular Medicine, Developmental Institute of Human Genetics, University of Ulm, Ulm, Germany
Department of Obstetrics and Gynaecology, Fertility Clinic, University Hospital of Odense, Odense, Denmark
Max-Planck-Institute for Molecular Genetics, Berlin, Germany
The Ludwig Center for Cancer Genetics and Therapeutics, The Johns Hopkins Kimmel Cancer Center, Baltimore, USA
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