TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome - PubMed (original) (raw)

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

doi: 10.1016/s0092-8674(01)00247-1.

B Funke, J A Epstein, J Heyer, A Puech, M M Lu, R J Xavier, M B Demay, R G Russell, S Factor, K Tokooya, B S Jore, M Lopez, R K Pandita, M Lia, D Carrion, H Xu, H Schorle, J B Kobler, P Scambler, A Wynshaw-Boris, A I Skoultchi, B E Morrow, R Kucherlapati

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

S Merscher et al. Cell. 2001.

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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.

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