Title: VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
Authors: Stalmans, Ingeborg
Lambrechts, Diether
De Smet, Frederik
Jansen, Sandra
Wang, Jian
Maity, Sunit
Kneer, Paige
von der Ohe, Maren
Swillen, Ann
Maes, Christa
Gewillig, Marc
Molin, Daniel G M
Hellings, Peter
Boetel, Thurid
Haardt, Maartin
Compernolle, Veerle
Dewerchin, Mieke
Plaisance, Stephane
Vlietinck, Robert
Emanuel, Beverly
Gittenberger-de Groot, Adriana C
Scambler, Peter
Morrow, Bernice
Driscol, Deborah A
Moons, Lieve
Esguerra, Camila V
Carmeliet, Geert
Behn-Krappa, Annett
Devriendt, Koenraad
Collen, Desire
Conway, Simon J
Carmeliet, Peter # ×
Issue Date: Feb-2003
Publisher: Nature Pub. Co.
Series Title: Nature medicine vol:9 issue:2 pages:173-82
Abstract: Hemizygous deletion of chromosome 22q11 (del22q11) causes thymic, parathyroid, craniofacial and life-threatening cardiovascular birth defects in 1 in 4,000 infants. The del22q11 syndrome is likely caused by haploinsufficiency of TBX1, but its variable expressivity indicates the involvement of additional modifiers. Here, we report that absence of the Vegf164 isoform caused birth defects in mice, reminiscent of those found in del22q11 patients. The close correlation of birth and vascular defects indicated that vascular dysgenesis may pathogenetically contribute to the birth defects. Vegf interacted with Tbx1, as Tbx1 expression was reduced in Vegf164-deficient embryos and knocked-down vegf levels enhanced the pharyngeal arch artery defects induced by tbx1 knockdown in zebrafish. Moreover, initial evidence suggested that a VEGF promoter haplotype was associated with an increased risk for cardiovascular birth defects in del22q11 individuals. These genetic data in mouse, fish and human indicate that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome.
ISSN: 1078-8956
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Vesalius Research Centre (-)
Production Engineering, Machine Design and Automation (PMA) Section
Clinical and Experimental Endocrinology
Cardiovascular Developmental Biology
Molecular and Vascular Biology
Research Group Experimental Oto-rhino-laryngology
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Animal Physiology and Neurobiology Section - miscellaneous
Research Group Ophthalmology
Laboratory of Clinical Immunology
Switch Laboratory
Department of Human Genetics - miscellaneous
Laboratory of Translational Genetics (Vesalius Research Center) (+)
Laboratory of Angiogenesis and Vascular Metabolism (Vesalius Research Center) (+)
× corresponding author
# (joint) last author

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