DiGeorge syndrome: an update : Current Opinion in Cardiology (original) (raw)

Molecular Genetics

Division of Cardiology, Department of Pediatrics, Department of Molecular and Human Genetics, and Center for Cardiovascular Development, Baylor College of Medicine, Houston, Texas, USA

Correspondence to Antonio Baldini, Baylor College of Medicine, 6621 Fannin, FC.430.09 Houston, TX 77030, USA Tel: 832 824 4161; fax: 832 825 4153; e-mail: [email protected]

Research in the author’s laboratory is supported by the National Institutes of Health.

Abstract

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.