房间隔缺损患者中人类TBX20转录激活域的新型突变。
Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.
作者信息
Monroy-Muñoz Irma Eloisa, Pérez-Hernández Nonanzit, Rodríguez-Pérez José Manuel, Muñoz-Medina José Esteban, Angeles-Martínez Javier, García-Trejo José J, Morales-Ríos Edgar, Massó Felipe, Sandoval-Jones Juan Pablo, Cervantes-Salazar Jorge, García-Montes José Antonio, Calderón-Colmenero Juan, Vargas-Alarcón Gilberto
机构信息
Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
Central Laboratory of Epidemiology, Instituto Mexicano del Seguro Social, 02900 Mexico City, Mexico.
出版信息
Biomed Res Int. 2015;2015:718786. doi: 10.1155/2015/718786. Epub 2015 Mar 5.
BACKGROUND
The relevance of TBX20 gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect of TBX20 mutations in human congenital heart diseases. In these studies, all missense mutations associated with atrial septal defect (ASD) were found in the DNA-binding T-box domain, none in the transcriptional activator domain.
METHODS
We search for TBX20 mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing.
RESULTS
We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD.
CONCLUSIONS
This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. These findings could have implications for diagnosis, genetic screening, and patient follow-up.
背景
TBX20基因在心脏发育中的相关性已在许多动物模型中得到证实，但很少有研究试图阐明TBX20突变在人类先天性心脏病中的作用。在这些研究中，所有与房间隔缺损（ASD）相关的错义突变都位于DNA结合T盒结构域，转录激活结构域中未发现突变。
方法
我们使用高分辨率熔解（HRM）方法和DNA测序在一组房间隔缺损（ASD）或室间隔缺损（VSD）患者中寻找TBX20突变。
结果
我们报告了人类TBX20转录激活结构域内与ASD相关的三个错义突变（Y309D、T370O和M395R）。
结论
这是首次将TBX20转录激活结构域错义突变与ASD联系起来。这些发现可能对诊断、基因筛查和患者随访有影响。
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