A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

Lady J Ríos-Serna1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia, [email protected]

Lorena Díaz-Ordoñez1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia, [email protected]

Estephania Candelo1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia, [email protected];2 Biomaterial and Tissues Engineering and Genetic of Human Diseases, University College London, London, UK

Harry Pachajoa1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia, [email protected];3 Fundación Valle del Lili, Cali, Valle del Cauca, Colombia, [email protected]Correspondence[email protected]

Pages 157-162 | Published online: 23 Nov 2018

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HoltMOramSFamilial heart disease with skeletal malformationsBr Heart J196022Case 123624214402857
PubMedGoogle Scholar
HuangTCurrent advances in Holt-Oram syndromeCurr Opin Pediatr200214669169512436037
PubMed Web of Science ®Google Scholar
orpha.net [homepage on the Internet]BossertTWaltherTGummertJHubaldRKostelkaMMohrFWHolt-Oram syndrome. Orphanet Encycl2003 Available from: http://www.orpha.net/data/patho/GB/uk-HOS.pdfAccessed November 1, 2018
Google Scholar
HurstAHallCMBaraitserMThe Holt-Oram syndromeJ Med Genet19912864064101870097
PubMed Web of Science ®Google Scholar
McdermottDABressanMCHeJTBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromePediatr Res200558598198616183809
PubMed Web of Science ®Google Scholar
BarisicIBobanLGreenleesRHolt Oram syndrome: a registry-based study in EuropeOrphanet J Rare Dis2014915625344219
PubMed Web of Science ®Google Scholar
SlettenLJPierpontMEVariation in severity of cardiac disease in Holt-Oram syndromeAm J Med Genet19966521281328911604
PubMed Web of Science ®Google Scholar
Weizmann Institute of ScienceGeneCards Human Gene Database. TBX5 Gene Available from: http://www.genecards.org/cgi-bin/card-disp.pl?gene=TBX5Accessed November 1, 2018
Google Scholar
SimonHT-box genes and the formation of vertebrate forelimb- and hindlimb specific patternCell Tissue Res19992961576610199965
PubMed Web of Science ®Google Scholar
HatcherCJGoldsteinMMMahCSDeliaCSBassonCTIdentification and localization of TBX5 transcription factor during human cardiac morphogenesisDev Dyn20002191909510974675
PubMed Web of Science ®Google Scholar
SteimleJDMoskowitzIPTBX5: a key regulator of heart developmentCurr Top Dev Biol201712219522128057264
PubMed Web of Science ®Google Scholar
AgarwalPWylieJNGalceranJTbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryoDevelopment2003130362363312490567
PubMed Web of Science ®Google Scholar
KimuraMKikuchiAIchinoiNKureSNovel TBX5 duplication in a Japanese family with Holt-Oram syndromePediatr Cardiol201536124424725274398
PubMed Web of Science ®Google Scholar
MoriADBruneauBGTBX5 mutations and congenital heart disease: Holt-Oram syndrome revealedCurr Opin Cardiol200419321121515096952
PubMed Web of Science ®Google Scholar
FanCLiuMWangQFunctional analysis of TBX5 missense mutations associated with Holt-Oram syndromeJ Biol Chem2003278108780878512499378
PubMed Web of Science ®Google Scholar
ChenLi BSunSXuKWuRYGenetic Analyses Identified a SALL4 Gene Mutation Associated with Holt–Oram SyndromeDNA Cell Biol201837439840429461882
PubMed Web of Science ®Google Scholar
BassonCTCowleyGSSolomonSDThe clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndromeN Engl J Med1994330138858918114858
PubMed Web of Science ®Google Scholar
SmemoSCamposLCMoskowitzIPKriegerJEPereiraACNobregaMARegulatory variation in a TBX5 enhancer leads to isolated congenital heart diseaseHum Mol Genet201221143255326322543974
PubMed Web of Science ®Google Scholar
StennardFAHarveyRPT-box transcription factors and their roles in regulatory hierarchies in the developing heartDevelopment2005132224897491016258075
PubMed Web of Science ®Google Scholar
HatcherCJMcdermottDAUsing the TBX5 transcription factor to grow and sculpt the heartAm J Med Genet part A2006140131414141816691575
PubMed Web of Science ®Google Scholar
ACMGGenetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statementGenet Med20024316217112180152
PubMed Web of Science ®Google Scholar
BrassingtonAMSungSSToydemirRMExpressivity of Holt-Oram syndrome is not predicted by TBX5 genotypeAm J Hum Genet2003731748512789647
PubMed Web of Science ®Google Scholar
TsengYRYnSFlLHolt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 geneAm J Med Genet Part A2007143910121014
Web of Science ®Google Scholar
GaravelliLde BrasiDVerriRHolt-Oram syndrome associated with anomalies of the feetAm J Med Genet Part A2008146A91185118918351627
PubMed Web of Science ®Google Scholar
ChinJPereiraSCamachoAHolt-Oram syndrome: a case reportRev Port Cardiol20143311737.e1525455949
PubMedGoogle Scholar

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