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- Title
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, Litu; Tümer, Zeynep; Møllgård, Kjeld; Barbi, Gotthold; Rossier, Eva; Bendsen, Eske; Møller, Rikke Steensbjerre; Ullmann, Reinhard; Jian He; Papadopoulos, Nickolas; Tommerup, Niels; Larsen, Lars Allan
- 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.European Journal of Human Genetics (2009) 17, 1010–1018; doi:10.1038/ejhg.2008.269; published online 28 January 2009
- Subjects
INTELLECTUAL disabilities; CHROMOSOMES; HEART diseases; HUMAN genetics; BRAIN diseases; PATHOLOGICAL psychology; MYELOID leukemia
- Publication
European Journal of Human Genetics, 2009, Vol 17, Issue 8, p1010
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.269