TY - JOUR
T1 - Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease
T2 - Implications for involvement of RUNX1T1 in human brain and heart development
AU - Zhang, Litu
AU - Tümer, Zeynep
AU - Møllgård, Kjeld
AU - Barbi, Gotthold
AU - Rossier, Eva
AU - Bendsen, Eske
AU - Møller, Rikke Steensbjerre
AU - Ullmann, Reinhard
AU - He, Jian
AU - Papadopoulos, Nickolas
AU - Tommerup, Niels
AU - Larsen, Lars Allan
N1 - Funding Information:
This work was supported by The Danish Heart Association, The Novonordisk Foundation, Grosserer L. F. Foghts Fond, Ronald McDonald House Charities and Gangstedfonden. Wilhelm Johannsen Centre for Functional Genome Research is established by the Danish National Research Foundation. We thank Lillian Rasmussen, Kirsten Winther and Sussi Forchhammer for technical assistance.
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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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U2 - 10.1038/ejhg.2008.269
DO - 10.1038/ejhg.2008.269
M3 - Article
C2 - 19172993
AN - SCOPUS:67849117067
SN - 1018-4813
VL - 17
SP - 1010
EP - 1018
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 8
ER -