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TGFB1 mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP‐domain‐specific mutations

Camurati–Engelmann disease (CED, OMIM 131300) is an autosomal dominant progressive diaphyseal dysplasia with variable phenotypic expression. Most CED patients present with hyperostosis of diaphyses of the long bones and skull, limb pain, muscular weakness, waddling gait, delayed sexual development, and bone marrow dysfunction, while a few patients have no severe symptoms without any complaints [Makita et al., 2000]. We assigned the CED locus to chromosome 19q13.1-q13.3 [Ghadami et al., 2000], which was later confirmed by Janssens et al. [2000a] and Vaughn et al. [2000].