Journal
CURRENT OPINION IN CARDIOLOGY
Volume 19, Issue 3, Pages 201-204Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00001573-200405000-00002
Keywords
Tbx1 transcription factor; aortic arch defects; cardiac outflow tract defects
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Purpose of review This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects. Recent findings The identification of mutations of the human T-Box1 (TBX1) gene and progress on research of Tbx1 function in mouse development demonstrate the pathogenetic role of this gene in DiGeorge syndrome and generate new hypotheses about its function in cardiovascular development. Summary The Tbx1 genetic pathway and the cell biology of tissues contributing to pharyngeal arch arteries and cardiac outflow tract are the foundation for understanding congenital heart disease in DiGeorge syndrome.
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