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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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.
I: European Journal of Human Genetics, 2009.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - 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
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
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.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269.
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.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269.
U2 - 10.1038/ejhg.2008.269
DO - 10.1038/ejhg.2008.269
M3 - Journal article
C2 - 19172993
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
ER -
ID: 10795326