Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot.
Vangl2 (Van Gogh-like 2) protein acts via non-canonical Wnt signalling to regulate polarized cell movements during development of the proximal outflow tract in vertebrate embryos. Recently, it has been shown that mutations of the Vangl2 gene cause aortic arch defects that are characteristic of the loop-tail (Lp) mouse and they have also became a strong candidate for causing congenital outflow tract defects in humans. Thus, in this study Tetralogy of Fallot (ToF), which comprises a group of syndromes that constitutes the most frequent cause of congenital cardiac outflow abnormalities in humans, was analysed for mutations within all coding regions of the Vangl2 gene. Based on direct sequencing data from a combination of 20 patients with ToF and 22 healthy people, three polymorphisms have been identified in exon 6 and exon 7 which do not change the amino acid sequence. It was concluded, therefore, that there is no specific mutation responsible for the ToF phenotype in the Vangl2 gene.
Department of Medical Biology and Genetics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey. esra.erdal@deu.edu.tr
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Açikel
D000818:Animals; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D011110:Polymorphism, Genetic; D013771:Tetralogy of Fallot / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C468513:VANGL2 protein, human