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

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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 1–3). 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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Authors and Affiliations

  1. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

    Katrien Janssens & Wim Van Hul

  2. Institute of Human Genetics, Rambam Medical Center, Haifa, Israel

    Ruth Gershoni-Baruch

  3. Department of Rheumatology, Hospital Clínic., Barcelona, Spain

    Nuria Guañabens

  4. Department of Genetics, Biology and Biochemistry, University of Torino, Torino, Italy

    Nicola Migone

  5. Department of Medicine and Therapeutics, University of Aberdeen Medical School, Aberdeen, UK

    Stuart Ralston

  6. Department of Medical Genetics, University Hospital of Brussels, Brussels, Belgium

    Maryse Bonduelle & Willy Lissens

  7. Department of Rheumatology, University Hospital of Brussels, Brussels, Belgium

    Leon Verbruggen

  8. Center of Human Genetics, Institute of Pathology and Genetics, Loverval, Belgium

    Lionel Van Maldergem

  9. Department of Radiology, University Hospital of Antwerp, Antwerp, Belgium

    Filip Vanhoenacker

Authors
  1. Katrien Janssens
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  2. Ruth Gershoni-Baruch
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  3. Nuria Guañabens
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  4. Nicola Migone
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  5. Stuart Ralston
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  6. Maryse Bonduelle
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  7. Willy Lissens
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  8. Lionel Van Maldergem
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  9. Filip Vanhoenacker
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  10. Leon Verbruggen
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  11. Wim Van Hul
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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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