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

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

doi:10.1038/ejhg.2008.269

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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

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Ullmann, Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Zhang, L., Tümer, Z., Møllgård, K., Barbi, G., Rossier, E., Bendsen, E., et al. (2009). 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. European Journal of Human Genetics, 17(8), 1010-1018. doi:10.1038/ejhg.2008.269.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-7D48-6

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.