Genome-wide linkage analysis showed that KS is caused by an abnormality in the actin cytoskeleton and its association with the extracellular matrix due to a deficiency or defect in the focal adhesion protein kindlin-1 (also known as fermitin family homologue 1) (Jobard et al., 2003, Siegel et al., 2003). This evidence concerns the gene FERMT1 and Kindler syndrome.