Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations in females and lethality in males. In contrast with previous reports showing frequent somatic inactivation of WTX in Wilms tumor, individuals with germline WTX mutations are not predisposed to cancer.