ArticleMolecular genetics & genomic medicine2016
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Congenital heart disease missense mutations in the TBX5 DNA-binding domain alter thermal stability and DNA-binding affinity.G3 (Bethesda, Md.) · 2025Article
- Identification of a novelHeliyon · 2022Article
- Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.Molecular genetics and genomics : MGG · 2021Article
- Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation ofFrontiers in pediatrics · 2021Article
- TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.PloS one · 2020Article
- Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Molecular genetics & genomic medicine · 2019Article
- Electrical disorders in atrial septal defect: genetics and heritability.Journal of thoracic disease · 2018Review
- Identification of a novel non-sense mutation inJournal of cardiovascular and thoracic research · 2018Article
- MicroRNAs: pleiotropic players in congenital heart disease and regeneration.Journal of thoracic disease · 2017Review
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. We describe a dramatic phenotype of a male, 15-month-old patient being investigated for strict diagnostic criteria of HOS. METHODS AND
resultsGenetic analysis revealed a so far unpublished TBX5 mutation, which occurs de novo in the patient with healthy parents. TBX5 belongs to the large family of T-box transcription factors playing major roles in morphogenesis and cell-type specification. The mutation located in the DNA-binding domain at position 920 (C→A) leads to an amino acid change at position 85 (proline → threonine). Three-dimensional analysis of the protein structure predicted a cis to trans change in the respective peptide bond, thereby probably provoking major conformational and functional alterations of the protein. The p.Pro85Thr mutation showed a dramatically reduced activation (97%) of the NPPA promoter in luciferase assays and failed to induce NPPA expression in HEK 293 cells compared to wild-type TBX5 protein. The mutation did not interfere with the nuclear localization of the protein.
conclusionThese results suggest that the dramatic functional alteration of the p.Pro85Thr mutation leads to the distinctive phenotype of the patient.
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