title: Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.
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.
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Irma Eloisa
authors.initials: IE
authors.lastname: Monroy-Muñoz
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Nonanzit
authors.identifier: 0000-0003-4786-508X
authors.initials: N
authors.lastname: Pérez-Hernández
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Rodríguez-Pérez
authors.affiliation: Central Laboratory of Epidemiology, Instituto Mexicano del Seguro Social, 02900 Mexico City, Mexico.
authors.forename: José Esteban
authors.initials: JE
authors.lastname: Muñoz-Medina
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Javier
authors.initials: J
authors.lastname: Angeles-Martínez
authors.affiliation: Department of Biology, Chemistry Faculty, Universidad Nacional Autónoma de México, 04510 Mexico City, Mexico.
authors.forename: José J
authors.initials: JJ
authors.lastname: García-Trejo
authors.affiliation: Department of Biology, Chemistry Faculty, Universidad Nacional Autónoma de México, 04510 Mexico City, Mexico.
authors.forename: Edgar
authors.initials: E
authors.lastname: Morales-Ríos
authors.affiliation: Department of Physiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Felipe
authors.initials: F
authors.lastname: Massó
authors.affiliation: Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Juan Pablo
authors.initials: JP
authors.lastname: Sandoval-Jones
authors.affiliation: Department of Congenital Heart Disease Surgery, Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Jorge
authors.initials: J
authors.lastname: Cervantes-Salazar
authors.affiliation: Department of Interventional Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: José Antonio
authors.initials: JA
authors.lastname: García-Montes
authors.affiliation: Department of Pediatric Cardiology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Juan
authors.initials: J
authors.lastname: Calderón-Colmenero
authors.affiliation: Department of Molecular Biology, Instituto Nacional de Cardiología Ignacio Chávez, 14080 Mexico City, Mexico.
authors.forename: Gilberto
authors.initials: G
authors.lastname: Vargas-Alarcón
mesh_terms: D000368:Aged; D000818:Animals; D002648:Child; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D038081:Organogenesis / Q000235:genetics; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA; D020825:T-Box Domain Proteins / Q000235:genetics*; D015533:Transcriptional Activation / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins; C420984:TBX20 protein, human
references.citation: Circ Res. 2004 Feb 20;94(3):273-83
references.pmid: 14976138
references.citation: Cardiol Young. 2000 May;10(3):179-85
references.pmid: 10824896
references.citation: Nature. 1992 Jan 23;355(6358):371-3
references.pmid: 1731252
references.citation: FEBS Lett. 1997 Jun 9;409(2):201-6
references.pmid: 9202145
references.citation: Nature. 1997 Oct 23;389(6653):884-8
references.pmid: 9349824
references.citation: Dev Dyn. 2005 Jan;232(1):11-20
references.pmid: 15580613
references.citation: Development. 2005 May;132(10):2475-87
references.pmid: 15843407
references.citation: Development. 2005 Nov;132(22):4897-910
references.pmid: 16258075
references.citation: Rev Esp Cardiol. 2005 Dec;58(12):1428-34
references.pmid: 16371202
references.citation: Circulation. 2007 Jan 16;115(2):163-72
references.pmid: 17210844
references.citation: Am J Hum Genet. 2007 Aug;81(2):280-91
references.pmid: 17668378
references.citation: J Biol Chem. 2007 Aug 31;282(35):25748-59
references.pmid: 17584735
references.citation: Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19833-8
references.pmid: 19074289
references.citation: J Med Genet. 2010 Apr;47(4):230-5
references.pmid: 19762328
references.citation: J Clin Invest. 2011 Dec;121(12):4640-54
references.pmid: 22080862
references.citation: Dev Biol. 2012 Mar 1;363(1):234-46
references.pmid: 22226977
references.citation: Hum Mol Genet. 2012 May 15;21(10):2194-204
references.pmid: 22328084
references.citation: BMC Med Genet. 2012;13:17
references.pmid: 22429680
references.citation: Gac Med Mex. 2013 Mar-Apr;149(2):212-9
references.pmid: 23652188
references.citation: PLoS One. 2013;8(7):e70149
references.pmid: 23936153
references.citation: Am J Cardiol. 1971 Dec;28(6):653-7
references.pmid: 4256258