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Article
Using the TBX5 transcription factor to grow and sculpt the heart
American Journal of Medical Genetics, Part A
  • Cathy J. Hatcher, Philadelphia College of Osteopathic Medicine
  • Deborah A. McDermott
Document Type
Article
Publication Date
1-1-2006
Disciplines
Abstract
TBX5 mutations cause the cardiac and limb defects of the autosomal dominant Holt-Oram syndrome (HOS). We have explored the role of the TBX5 transcription factor during cardiogenesis and have elucidated some of its functions in regulating myocardial cell proliferation and proepicardial cell migration. Our identification of TBX5 mutations has enabled us to offer genetic testing for diagnosis of HOS in patients and also to perform preimplantation genetic diagnosis on blastocysts for couples desiring to have a child unaffected by HOS. We hope that our genetic testing approach will serve as a paradigm for mutation screening in other inherited syndromes. © 2006 Wiley-Liss, Inc.
Comments

This article was published in American Journal of Medical Genetics, Part A, Volume 140, Issue 13, Pages 1414-1418.

The published version is available at http://dx.doi.org/10.1002/ajmg.a.31256.

Copyright © 2006 Wiley.

Citation Information
Cathy J. Hatcher and Deborah A. McDermott. "Using the TBX5 transcription factor to grow and sculpt the heart" American Journal of Medical Genetics, Part A Vol. 140 Iss. 13 (2006) p. 1414 - 1418
Available at: http://works.bepress.com/cathy_hatcher/19/