Figure 1.
Genotype and phenotype of human and murine Williams-Beuren Syndrome.
Top: human WBS locus; Bottom: murine WBS locus; Left: genotypes; Right: phenotypes. In the human WBS locus, deletion of ELN is associated with hypertension. WBS patients with deletions incorporating loss of NCF1 (1.83 Mb) are at lower risk for hypertension compared to patients with the more common WBS deletion (1.55 Mb). In the murine WBS locus, the DD mouse with a 0.67 Mb deletion containing Eln is hypertensive. It contains both Ncf1 alleles (dotted lines indicate that the gene is present). Mice with an adjacent PD deletion are normotensive [4]. Hypertension in the DD mouse is corrected when mated with Ncf1+/− mice.