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      Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease

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          GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

          Vidu Garg, Irfan S Kathiriya, Robert Barnes … (2003)
          Congenital heart defects (CHDs) are the most common developmental anomaly and are the leading non-infectious cause of mortality in newborns. Only one causative gene, NKX2-5, has been identified through genetic linkage analysis of pedigrees with non-syndromic CHDs. Here, we show that isolated cardiac septal defects in a large pedigree were linked to chromosome 8p22-23. A heterozygous G296S missense mutation of GATA4, a transcription factor essential for heart formation, was found in all available affected family members but not in any control individuals. This mutation resulted in diminished DNA-binding affinity and transcriptional activity of Gata4. Furthermore, the Gata4 mutation abrogated a physical interaction between Gata4 and TBX5, a T-box protein responsible for a subset of syndromic cardiac septal defects. Conversely, interaction of Gata4 and TBX5 was disrupted by specific human TBX5 missense mutations that cause similar cardiac septal defects. In a second family, we identified a frame-shift mutation of GATA4 (E359del) that was transcriptionally inactive and segregated with cardiac septal defects. These results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5.
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            CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.

            Richard Bamford, Elizabeth Goldmuntz, Juan Cruz … (2002)
            Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great arteries and double-outlet right ventricle, in the absence of laterality defects---would also have CFC1 mutations. Our analysis of the CFC1 gene in patients with these cardiac disorders identified two disease-related mutations in 86 patients. The present study identifies the first autosomal single-gene defect for these cardiac malformations and indicates that some cases of transposition of the great arteries and double-outlet right ventricle can share a common genetic etiology with heterotaxy syndrome. In addition, these results demonstrate that the molecular pathway involving CFC1 plays a critical role in normal and abnormal cardiovascular development.
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              Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

              A. Pereira, J. Krieger, S. F. Mesquita … (1999)
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                Author and article information

                Journal
                Title: Pediatric Cardiology
                Abbreviated Title: Pediatr Cardiol
                Publisher: Springer Nature
                ISSN (Print): 0172-0643
                ISSN (Electronic): 1432-1971
                Publication date Created: December 2006
                Publication date (Print): October 2006
                Volume: 27
                Issue: 6
                Pages: 695-698
                Article
                DOI: 10.1007/s00246-006-1082-0
                SO-VID: 04712ec0-5c8c-4e76-ba8e-e1809c1097d6
                Copyright © © 2006
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