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Cell. 2001 Feb 23;104(4):619-29.

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

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1
Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA

Abstract

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.

PMID:
11239417
[Indexed for MEDLINE]
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