DiGeorge syndrome: an update.
OBJECTIVE
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.


RESULTS
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.


CONCLUSIONS
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.
Baldini
Antonio
A
Division of Cardiology, Department of Pediatrics, and Center for Cardiovascular Development, Baylor College of Medicine, Houston, Texas 77030, USA. baldini@bcm.tmc.edu
D000818:Animals; D001013:Aorta, Thoracic / Q000002:abnormalities; D004062:DiGeorge Syndrome / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D009154:Mutation; D020825:T-Box Domain Proteins / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics
D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse