title: [Camurati-Engelmann disease].
abstract: Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. Estimated number of patients with CAEND in Japan is approximately 50-60 by our epidemiological survey. We have reported that domain-specific mutations in transforming growth factor-β1 gene(TGFB1) cause CAEND. Mutations in latency associated peptide(LAP) domain of TGF-β1 destabilize the complex and may hyperactivate TGF signal pathway. We tried to establish CAEND model mice by gene-targeting, but could not because of spermatogenesis defects in chimera mice. We also failed using CRISPR/Cas9 system. Alternatively, we established CAEND patient-derived iPS cells, and are advancing research with them to develop novel therapeutic agents for CAEND.
authors.forename: Akira
authors.initials: A
authors.lastname: Kinoshita
mesh_terms: D000818:Animals; D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D015398:Signal Transduction; D053773:Transforming Growth Factor beta1 / Q000235:genetics / Q000378:metabolism
chemical_list: D053773:Transforming Growth Factor beta1