scholarly journals TBX5 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Tbx5 Gene

Holt–Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery

2011 ◽  
Vol 21 (3) ◽  
pp. 351-353 ◽  
Author(s):  
Caio B. Vianna ◽  
Nana Miura ◽  
Alexandre C. Pereira ◽  
Marcelo B. Jatene
Keyword(s):  
Coronary Artery ◽  
Right Coronary Artery ◽  
Initial Segment ◽  
Septal Defect ◽  
Pulmonary Arteries ◽  
Cardiac Defects ◽  
Tbx5 Gene ◽  
Anomalous Coronary ◽  
Anomalous Coronary Arteries ◽  
Splicing Site

AbstractThe Holt–Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt–Oram syndrome patients and should be added to the list of possible associated cardiac defects.

scholarly journals Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Guan-nan He ◽  
Xue-yan Wang ◽  
Min Kang ◽  
Xi-min Chen ◽  
Na Xi ◽  
...  
Keyword(s):  
Septal Defect ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Splice Donor ◽  
Autosomal Dominant Disorder ◽  
Cubitus Valgus ◽  
Case Presentation ◽  
Whole Exome ◽  
The Right ◽  
Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

scholarly journals GW26-e2369 Nicotine Exposure Causes GATA4 and Tbx5 Gene Repression by DNA Hypermethylation during Cardiac Myogenesis

2015 ◽  
Vol 66 (16) ◽  
pp. C75
Author(s):  
Xueyan Jiang ◽  
Xiaohong Li ◽  
Juan Feng ◽  
Qinxiong Lin ◽  
Ming Yang ◽  
...  
Keyword(s):  
Gene Repression ◽  
Nicotine Exposure ◽  
Dna Hypermethylation ◽  
Cardiac Myogenesis ◽  
Tbx5 Gene

scholarly journals Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome

2010 ◽  
Vol 33 (2) ◽  
pp. 232-236 ◽  
Author(s):  
Marianna P.R. Porto ◽  
Naja Vergani ◽  
Antonio Carlos C. Carvalho ◽  
Mirlene C.S.P. Cernach ◽  
Decio Brunoni ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Tbx5 Gene

scholarly journals Common Variants in the TBX5 Gene Associated with Atrial Fibrillation in a Chinese Han Population

PLoS ONE ◽  
2016 ◽  
Vol 11 (8) ◽  
pp. e0160467 ◽  
Author(s):  
Rongfeng Zhang ◽  
Xiaochen Tian ◽  
Lianjun Gao ◽  
Huihua Li ◽  
Xiaomeng Yin ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Chinese Han Population ◽  
Common Variants ◽  
Chinese Han ◽  
Han Population ◽  
Tbx5 Gene

scholarly journals Successful surgical closure of an aortopulmonary window associated with Holt-Oram syndrome in adulthood

2018 ◽  
Vol 75 (7) ◽  
pp. 730-733
Author(s):  
Igor Stefanovic ◽  
Aleksa Milic ◽  
Kristina Matejic ◽  
Ida Jovanovic
Keyword(s):  
Pulmonary Hypertension ◽  
Severe Heart Failure ◽  
Diagnostic Procedures ◽  
Aortopulmonary Window ◽  
Autosomal Dominant Disorder ◽  
Surgical Closure ◽  
Common Arterial Trunk ◽  
Arterial Trunk ◽  
Rare Case Report ◽  
Tbx5 Gene

Introduction. Aortopulmonary window (APW) is a rare congenital anomaly caused by incomplete division of the embryonic common arterial trunk which allows direct and usually unobstructed communication between the ascending aorta and pulmonary artery trunk. Holt-Oram syndrome (HOS) is an autosomal dominant disorder caused by the mutation in the TBX5 gene and it is characterized by bones abnormalities in at least one limb while the association with APW is extremely rare. Case report. We report a case of a female patient in her thirties with an extremely rare combination of the HOS and APW window that reached the adulthood without surgical correction. The adult patient came to our clinic with signs of severe heart failure and pulmonary hypertension. Although previously diagnosed as inoperable, after the decongestive medical treatment and detailed diagnostic procedures we proved reactive pulmonary vascular resistance and the patient was successfully surgically treated. Conclusion. This case confirms the absolute necessity of cautious and comprehensive examinations of each patient with congenital heart disease and pulmonary hypertension irrespective of age.

scholarly journals Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects

2018 ◽  
Vol 10 (1) ◽  
pp. 41-45 ◽  
Author(s):  
Mehri Khatami ◽  
Mohammad Mehdi Heidari ◽  
Fatemeh Kazeminasab ◽  
Razieh Zare Bidaki
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pediatric Patients ◽  
Heart Defects ◽  
Tbx5 Gene
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