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 L
Tümer Z
Møllgård K
Barbi G
Rossier E
Bendsen E
Møller RS
Ullmann R
He J
Papadopoulos N
Tommerup N
Larsen LA
Source :: European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Aug; Vol. 17 (8), pp. 1010-8. Date of Electronic Publication: 2009 Jan 28.
Publication Year :: 2009
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.

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