Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect
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...
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doaj-8ad4a7ff016543c2b113d030eb2fcb612020-11-25T01:06:39ZengHindawi LimitedBioMed Research International2314-61332314-61412015-01-01201510.1155/2015/718786718786Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal DefectIrma Eloisa Monroy-Muñoz0Nonanzit Pérez-Hernández1José Manuel Rodríguez-Pérez2José Esteban Muñoz-Medina3Javier Angeles-Martínez4José J. García-Trejo5Edgar Morales-Ríos6Felipe Massó7Juan Pablo Sandoval-Jones8Jorge Cervantes-Salazar9José Antonio García-Montes10Juan Calderón-Colmenero11Gilberto Vargas-Alarcón12Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoCentral Laboratory of Epidemiology, Instituto Mexicano del Seguro Social, 02900 Mexico City, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Biology, Chemistry Faculty, Universidad Nacional Autónoma de México, 04510 Mexico City, MexicoDepartment of Biology, Chemistry Faculty, Universidad Nacional Autónoma de México, 04510 Mexico City, MexicoDepartment of Physiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Congenital Heart Disease Surgery, Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Interventional Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoDepartment of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, MexicoBackground. 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.http://dx.doi.org/10.1155/2015/718786 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Irma Eloisa Monroy-Muñoz Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez José Esteban Muñoz-Medina Javier Angeles-Martínez José J. García-Trejo Edgar Morales-Ríos Felipe Massó Juan Pablo Sandoval-Jones Jorge Cervantes-Salazar José Antonio García-Montes Juan Calderón-Colmenero Gilberto Vargas-Alarcón |
spellingShingle |
Irma Eloisa Monroy-Muñoz Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez José Esteban Muñoz-Medina Javier Angeles-Martínez José J. García-Trejo Edgar Morales-Ríos Felipe Massó Juan Pablo Sandoval-Jones Jorge Cervantes-Salazar José Antonio García-Montes Juan Calderón-Colmenero Gilberto Vargas-Alarcón Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect BioMed Research International |
author_facet |
Irma Eloisa Monroy-Muñoz Nonanzit Pérez-Hernández José Manuel Rodríguez-Pérez José Esteban Muñoz-Medina Javier Angeles-Martínez José J. García-Trejo Edgar Morales-Ríos Felipe Massó Juan Pablo Sandoval-Jones Jorge Cervantes-Salazar José Antonio García-Montes Juan Calderón-Colmenero Gilberto Vargas-Alarcón |
author_sort |
Irma Eloisa Monroy-Muñoz |
title |
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect |
title_short |
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect |
title_full |
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect |
title_fullStr |
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect |
title_full_unstemmed |
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect |
title_sort |
novel mutations in the transcriptional activator domain of the human tbx20 in patients with atrial septal defect |
publisher |
Hindawi Limited |
series |
BioMed Research International |
issn |
2314-6133 2314-6141 |
publishDate |
2015-01-01 |
description |
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. |
url |
http://dx.doi.org/10.1155/2015/718786 |
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