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Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Abstract

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 13). Because this region contains the gene encoding transforming growth factor-β1 (TGFB1), an important mediator of bone remodelling4, we evaluated TGFB1 as a candidate gene for causing CED.

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Figure 1: Mutations in TGFB1 and processing of TGF-β1.

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Acknowledgements

This study was supported by a concerted action grant from the University of Antwerp to W.V.H. and a grant (G.0404.00) from the Fonds voor Wetenschappelijk Onderzoek Vlaanderen to W.V.H. K.J. holds a predoctoral position with the FWO.

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Correspondence to Wim Van Hul.

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Janssens, K., Gershoni-Baruch, R., Guañabens, N. et al. Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease. Nat Genet 26, 273–275 (2000). https://doi.org/10.1038/81563

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