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

Litu Zhang, Zeynep Tümer, Kjeld Møllgård, Gotthold Barbi, Eva Rossier, Eske Bendsen, Rikke Steensbjerre Møller, Reinhard Ullmann, Jian He, Nickolas Papadopoulos, Niels Tommerup, Lars Allan Larsen

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)1010-1018
Number of pages9
JournalEuropean Journal of Human Genetics
Issue number8
StatePublished - Jan 29 2009


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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