[HTML][HTML] Characterization of at (5; 8)(q31; q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of …
L Zhang, Z Tümer, K Møllgård, G Barbi… - European journal of …, 2009 - nature.com
European journal of human genetics, 2009•nature.com
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 at (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 …
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 at (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 …
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 at (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.
nature.com