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
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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DOI：
10.1038/ejhg.2008.269
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发表时间：
2009-08
影响因子：
5.2
通讯作者：
Litu Zhang;Z. Tümer;K. Møllgård;G. Barbi;E. Rossier;E. Bendsen;R. Møller;R. Ullmann;Jian He;N. Papadopoulos;N. Tommerup;L. Larsen
中科院分区：
文献类型：
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作者：
Litu Zhang;Z. Tümer;K. Møllgård;G. Barbi;E. Rossier;E. Bendsen;R. Møller;R. Ullmann;Jian He;N. Papadopoulos;N. Tommerup;L. Larsen
与急性髓性白血病相关的 t (8; 21)(q21.3; q22.12) 易位染色体断裂点破坏 RUNX1 基因（也称为 AML1）和 RUNX1T1 基因（也称为 CBFA2T3、MTG8 和 ETO）并生成 RUNX1-RUNX1T1 融合蛋白。对患有轻度至中度智力低下和先天性心脏病的 (5; 8)(q32; q21.3) 患者易位断裂点的分子特征显示，其中一个断裂点位于 RUNX1T1 基因内。对人类胚胎和胎儿组织中 RUNX1T1 表达的分析表明 RUNX1T1 在大脑和心脏发育中的作用，并支持 RUNX1T1 基因的破坏与患者的表型相关的观点。
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.