TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

Sandra Merscher, Birgit Funke, Jonathan A. Epstein, Joerg Heyer, Anne Puech, Min Min Lu, Ramnik J. Xavier, Marie B. Demay, Robert G. Russell, Stephen Factor, Kazuhito Tokooya, Bruno St Jore, Melissa Lopez, Raj K. Pandita, Marie Lia, Danaise Carrion, Hui Xu, Hubert Schorle, James B. Kobler, Peter ScamblerAnthony Wynshaw-Boris, Arthur I. Skoultchi, Bernice E. Morrow, Raju Kucherlapati

Research output: Contribution to journalArticlepeer-review

798 Scopus citations


Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.

Original languageEnglish (US)
Pages (from-to)619-629
Number of pages11
Issue number4
StatePublished - Feb 23 2001

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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