ArticleEuropean journal of human genetics : EJHG2019
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.BMC genomics · 2024Pooled it
- Holt-Oram syndrome presenting with failure to thrive due to a hemodynamically significant patent ductus arteriosus: the importance of early cardiac evaluation in infants with radial ray abnormalities.International journal of surgery case reports · 2026Article
- Developmental and transcriptional programs that define the initiation of the forelimb.Development (Cambridge, England) · 2026Article
- Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.Journal of cardiothoracic surgery · 2026Article
- A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.Case reports in genetics · 2026Article
- Developmental and transcriptional programs that define the initiation of the forelimb.bioRxiv : the preprint server for biology · 2025Article
- Characterization of a novelHaematologica · 2025Article
- From Petri Dish to Primitive Heart: How IVF Alters Early Cardiac Gene Networks and Epigenetic Landscapes.Biomedicines · 2025Review
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- When the heart and hands tell a story: an intriguing case of Holt-Oram syndrome.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024Article
- Article
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome.Frontiers in genetics · 2023Article
- Identification of a novelHeliyon · 2022Article
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2022Article
- European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.Journal of arrhythmia · 2022Article
- Article
- Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing.Frontiers in genetics · 2022Article
- Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt-Oram syndrome.American journal of medical genetics. Part A · 2022Article
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14 authors.
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Abstract
Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening. A TBX5 variant has been identified in 78 patients, representing the largest molecular series ever described. In the cohort, 61 met the previously described diagnostic criteria and 17 have been considered with an uncertain HOS diagnosis. A CHD was present in 91% of the patients with a TBX5 variant, atrial septal defects being the most common (61.5%). The genotype-phenotype study highlights the importance of some critical features in HOS: the septal characteristic of the CHD, the bilateral and asymmetric characteristics of the radial defect and the presence of shoulder or elbow mobility defect. Besides, 21 patients presented with an overlapping condition. Among them, 13 had a typical HOS presentation. We discuss the strategies that could be adopted to improve the molecular delineation of the remaining typical patients.
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