Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA)
<p>Abstract</p> <p>Background</p> <p>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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2005-05-01
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| Series: | BMC Medical Genetics |
| Online Access: | http://www.biomedcentral.com/1471-2350/6/20 |
| _version_ | 1798027175777009664 |
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| author | Goldmuntz Elizabeth Rüdiger Heinz-Juergen Schön Karin Roeth Ralph Niesler Beate Muncke Nadja Goodship Judith Rappold Gudrun |
| author_facet | Goldmuntz Elizabeth Rüdiger Heinz-Juergen Schön Karin Roeth Ralph Niesler Beate Muncke Nadja Goodship Judith Rappold Gudrun |
| author_sort | Goldmuntz Elizabeth |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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 <it>PITX2 </it>gene.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>As most sequence variants were also found in controls we conclude that mutations in <it>PITX2 </it>are not a common cause of dTGA.</p> |
| first_indexed | 2024-04-11T18:47:01Z |
| format | Article |
| id | doaj.art-1bbcc3e3416447cba453e67406acce9f |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-04-11T18:47:01Z |
| publishDate | 2005-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-1bbcc3e3416447cba453e67406acce9f2022-12-22T04:08:38ZengBMCBMC Medical Genetics1471-23502005-05-01612010.1186/1471-2350-6-20Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA)Goldmuntz ElizabethRüdiger Heinz-JuergenSchön KarinRoeth RalphNiesler BeateMuncke NadjaGoodship JudithRappold Gudrun<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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 <it>PITX2 </it>gene.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>As most sequence variants were also found in controls we conclude that mutations in <it>PITX2 </it>are not a common cause of dTGA.</p>http://www.biomedcentral.com/1471-2350/6/20 |
| spellingShingle | Goldmuntz Elizabeth Rüdiger Heinz-Juergen Schön Karin Roeth Ralph Niesler Beate Muncke Nadja Goodship Judith Rappold Gudrun Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) BMC Medical Genetics |
| title | Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) |
| title_full | Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) |
| title_fullStr | Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) |
| title_full_unstemmed | Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) |
| title_short | Mutational analysis of the <it>PITX2 </it>coding region revealed no common cause for transposition of the great arteries (dTGA) |
| title_sort | mutational analysis of the it pitx2 it coding region revealed no common cause for transposition of the great arteries dtga |
| url | http://www.biomedcentral.com/1471-2350/6/20 |
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