Dataset Information

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

ABSTRACT: 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.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.We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD.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.

SUBMITTER: Monroy-Munoz IE

PROVIDER: S-EPMC4365367 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Monroy-Muñoz Irma Eloisa IE Pérez-Hernández Nonanzit N Rodríguez-Pérez José Manuel JM Muñoz-Medina José Esteban JE Angeles-Martínez Javier J García-Trejo José J JJ Morales-Ríos Edgar E Massó Felipe F Sandoval-Jones Juan Pablo JP Cervantes-Salazar Jorge J García-Montes José Antonio JA Calderón-Colmenero Juan J Vargas-Alarcón Gilberto G

BioMed research international 20150305

<h4>Background</h4>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.<h4>Methods</h4>We search for TBX20 mutations in a group of patients with ASD or ventricular septal de ...[more]

PMID: 25834824

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Project description:Background Delayed brain development, brain injury, and neurodevelopmental disabilities are commonly observed in infants operated for complex congenital heart defect. Our previous findings of poorer neurodevelopmental outcomes in individuals operated for simple congenital heart defects calls for further etiological clarification. Hence, we examined the microstructural tissue composition in cerebral cortex and subcortical structures in comparison to healthy controls and whether differences were associated with neurodevelopmental outcomes. Methods and Results Adults (n=62) who underwent surgical closure of an atrial septal defect (n=33) or a ventricular septal defect (n=29) in childhood and a group of healthy, matched controls (n=38) were enrolled. Brain diffusional kurtosis imaging and neuropsychological assessment were performed. Cortical and subcortical tissue microstructure were assessed using mean kurtosis tensor and mean diffusivity and compared between groups and tested for associations with neuropsychological outcomes. Alterations in microstructural tissue composition were found in the parietal, temporal, and occipital lobes in the congenital heart defects, with distinct mean kurtosis tensor cluster-specific changes in the right visual cortex (pericalcarine gyrus, P=0.002; occipital part of fusiform and lingual gyri, P=0.019). Altered microstructural tissue composition in the subcortical structures was uncovered in atrial septal defects but not in ventricular septal defects. Associations were found between altered cerebral microstructure and social recognition and executive function. Conclusions Children operated for simple congenital heart defects demonstrated altered microstructural tissue composition in the cerebral cortex and subcortical structures during adulthood when compared with healthy peers. Alterations in cerebral microstructural tissue composition were associated with poorer neuropsychological performance. Registration URL: https://www.clinicaltrials.gov; Unique identifier: NCT03871881.

Dataset Information

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

Publications

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

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