一名患有智力障碍和先天性心脏病患者的t(5;8)(q31;q21)易位特征：RUNX1T1参与人类脑和心脏发育的意义
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.
作者信息
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
机构信息
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark.
出版信息
Eur J Hum Genet. 2009 Aug;17(8):1010-8. doi: 10.1038/ejhg.2008.269. Epub 2009 Jan 28.
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.
与急性髓系白血病相关的t(8;21)(q21.3;q22.12)易位的染色体断点破坏了RUNX1基因（也称为AML1）和RUNX1T1基因（也称为CBFA2T3、MTG8和ETO），并产生RUNX1-RUNX1T1融合蛋白。对一名患有轻度至中度智力发育迟缓及先天性心脏病的t(5;8)(q32;q21.3)患者的易位断点进行分子特征分析发现，其中一个断点位于RUNX1T1基因内。对人类胚胎和胎儿组织中RUNX1T1表达的分析表明，RUNX1T1在脑和心脏发育中发挥作用，并支持RUNX1T1基因的破坏与患者表型相关这一观点。
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