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Biomed Res Int. 2015;2015:718786. doi: 10.1155/2015/718786. Epub 2015 Mar 5.

Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.

Author information

1
Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
2
Central Laboratory of Epidemiology, Instituto Mexicano del Seguro Social, 02900 Mexico City, Mexico.
3
Department of Biology, Chemistry Faculty, Universidad Nacional Autónoma de México, 04510 Mexico City, Mexico.
4
Department of Physiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
5
Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
6
Department of Congenital Heart Disease Surgery, Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
7
Department of Interventional Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.

Abstract

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.

PMID:
25834824
PMCID:
PMC4365367
DOI:
10.1155/2015/718786
[Indexed for MEDLINE]
Free PMC Article

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