LAUSR

Winchester syndrome is a rare, autosomal recessive congenital disorder caused by deleterious mutations in MMP14, a membranebound metalloprotease. Severity of the phenotype varies, but patients typically have stunted growth, abnormal ossification of cranial sutures and drastically reduced bone density leading to pervasive deformity. They usually succumb prior to puberty to the cardiac defects that may be associated, such as mitral valve insufficiency. The reasons for the reduced bone density are insufficiently understood and treatment therefore is a hit-and-miss affair. We have now generated a zebrafish model that recapitulates the bone defects in Winchester syndrome. We expect that it will be a valuable tool for developing novel treatments for this devastating disorder.