| A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly. | |
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MedLine Citation:
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PMID: 18706711 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, have been demonstrated to be the underlying molecular alteration in individuals with different congenital cardiac disorders, notably the Holt-Oram syndrome. METHODS: Six members from a two-generation family from a consanguineous couple, which had atrial septal defects associated with postaxial hexodactyly in all extremities were clinically assessed and submitted to TBX5 mutational analysis performed by direct sequencing. RESULTS: We detected a new TBX5 missense mutation (V263M) in all four individuals studied with cardiac abnormalities. The genotype-phenotype correlations in light of unusual features are extensively discussed, as well as the possible significance of these atypical findings. CONCLUSIONS: These new data extend our clinical and molecular knowledge of TBX5 gene mutations and also raise interesting questions about the phenotype heterogeneity regarding these gene alterations. |
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Authors:
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Mário Henrique Girão Faria; Silvia Helena Barem Rabenhorst; Alexandre da Costa Pereira; José Eduardo Krieger |
Publication Detail:
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Type: Journal Article Date: 2008-08-15 |
Journal Detail:
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Title: International journal of cardiology Volume: 130 ISSN: 1874-1754 ISO Abbreviation: Int. J. Cardiol. Publication Date: 2008 Oct |
Date Detail:
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Created Date: 2008-10-22 Completed Date: 2009-01-05 Revised Date: 2009-09-08 |
Medline Journal Info:
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Nlm Unique ID: 8200291 Medline TA: Int J Cardiol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 30-5 Citation Subset: IM |
Affiliation:
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Molecular Genetics Laboratory, Department of Pathology and Forensic Medicine, School of Medicine, Federal University of Ceará, Fortaleza, CE, Brazil. mariofaria@doctor.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Fingers
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abnormalities* Hand Deformities, Congenital / genetics* Heart Septal Defects, Atrial / genetics Humans Mutation, Missense T-Box Domain Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/T-Box Domain Proteins; 0/T-box transcription factor 5 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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