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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2005

Open Access 01-12-2005 | Research article

Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun Rappold

Published in: BMC Medical Genetics | Issue 1/2005

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Abstract

Background

PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5–7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period.

Methods

To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene.

Results

Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and UTR variants, two silent mutations and two polymorphisms within the coding region.

Conclusion

As most sequence variants were also found in controls we conclude that mutations in PITX2 are not a common cause of dTGA.
Appendix
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Metadata
Title
Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)
Authors
Nadja Muncke
Beate Niesler
Ralph Roeth
Karin Schön
Heinz-Juergen Rüdiger
Elizabeth Goldmuntz
Judith Goodship
Gudrun Rappold
Publication date
01-12-2005
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2005
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-6-20

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