ArticleBMC medical genetics2008
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
Article in BMC medical genetics, 2008. 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, 30 citations in OpenAlex.
- Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report.Case reports in cardiology · 2026Article
- A term neonate with cyanosis with crying.Breathe (Sheffield, England) · 2021Article
- Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.Molecular genetics and genomics : MGG · 2021Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.European journal of human genetics : EJHG · 2019Article
- SALL4 as a transcriptional and epigenetic regulator in normal and leukemic hematopoiesis.Biomarker research · 2018Review
- Holt Oram syndrome: a registry-based study in Europe.Orphanet journal of rare diseases · 2014Article
- Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.Orphanet journal of rare diseases · 2013Article
- TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.European journal of human genetics : EJHG · 2012Article
- A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 Gene.Molecular syndromology · 2011Article
- A case report on holt-oram syndrome (heart-hand).ARYA atherosclerosis · 2011Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutosomal dominant Holt-Oram syndrome (HOS) is caused by mutations in the TBX5 gene and is characterized by congenital heart and preaxial radial ray upper limb defects. Most of the TBX5 mutations found in patients with HOS cause premature truncation of the primary TBX5 transcript. TBX5 missense mutations alter the three-dimensional structure of the protein and result in failed nuclear localization or reduced binding to target DNA. In this study we present our functional analyses of the novel and unusual c.1333delC mutation found in a patient with classical HOS.
methodsThe functional impact of this novel mutation was assessed by investigating the intracellular localization of the resulting TBX5 protein and its ability to activate the expression of its downstream target ANF.
resultsThe deletion of the cytosine is the first TBX5 frameshift mutation predicted to result in an elongated TBX5 protein with 74 miscoding amino acids and 62 supernumerary C-terminal amino acids. The c.1333delC mutation affects neither the nuclear localization, nor its colocalization with SALL4, but severely affects the activation of the ANF promoter.
conclusionThe mutation c.1333delC does not locate within functional domains, but impairs the activation of the downstream target. This suggests that misfolding of the protein prevents its biological function.
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