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Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene

Authors

  • Corinne Collet,

    Corresponding author
    1. Service de Rhumatologie, GH Saint-Louis Lariboisière Fernand Widal, Paris Diderot Université/Inserm U606, Paris, France
    • UF de Génétique Moléculaire, Service de Biochimie et de Biologie Moléculaire, pôle B2P, GH Saint-Louis Lariboisière Fernand Widal Inserm U606, Paris, France
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  • Jean-Louis Laplanche,

    1. UF de Génétique Moléculaire, Service de Biochimie et de Biologie Moléculaire, pôle B2P, GH Saint-Louis Lariboisière Fernand Widal Inserm U606, Paris, France
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  • Marie-Christine de Vernejoul

    1. Service de Rhumatologie, GH Saint-Louis Lariboisière Fernand Widal, Paris Diderot Université/Inserm U606, Paris, France
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  • Conflict of interest: none.

Correspondence to:

Dr. Corinne Collet, Ph.D., Pharm.D., UF de Génétique Moléculaire, Service de Biochimie et de Biologie Moléculaire, Hôpital Lariboisière, 2 rue Ambroise Paré, Paris 75010, France.

E-mail: corinne.collet@lrb.aphp.fr

Abstract

We report on a family affected by Camurati–Engelmann disease, characterized by radiological signs limited to the tibia, and associated with overweight or obesity, which is not a known feature of this disorder. The affected patients were heterozygous for a c.466C > T mutation (which predicts p.Arg156Cys) in the latency associated protein (LAP)-coding domain of the TGFB1 gene. This mutation had previously been reported once in another family with a similar, atypical phenotype, which suggests a possible phenotype/genotype relationship. © 2013 Wiley Periodicals, Inc.

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