ArticlePediatric cardiology2015
Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.
Article in Pediatric cardiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 25 citations in OpenAlex.
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Article
- Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Article
- Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation ofFrontiers in pediatrics · 2021Article
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- A novel de novoThe application of clinical genetics · 2018Article
- Identification of a novel non-sense mutation inJournal of cardiovascular and thoracic research · 2018Article
- TBX5: A Key Regulator of Heart Development.Current topics in developmental biology · 2017Review
- A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.Molecular genetics & genomic medicine · 2016Article
- A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.Journal of the Turkish German Gynecological Association · 2016Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this gene have been reported; however, TBX5 mutations are only identified in up to 74% of typical Holt-Oram syndrome patients. We report a Japanese family with 2 affected individuals with the typical Holt-Oram syndrome phenotype, namely bilateral asymmetrical radial ray deformities and an atrial septal defect. An array-based comparative genomic hybridization study revealed an 11-kb duplication at 12q24.1. Moreover, a multiplex ligation-dependent probe amplification study confirmed the duplication of exons 1-6 of TBX5. Although a small duplication in TBX5 (6 bases) has been reported, a large duplication of this gene has not been described previously in typical Holt-Oram syndrome patients. All typical Holt-Oram syndrome cases in which a mutation is not identified should be screened for TBX5 exon duplications.
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