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Am J Med Genet A. 2013 Aug;161A(8):2074-7. doi: 10.1002/ajmg.a.36022. Epub 2013 Jul 3.

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

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

Copyright © 2013 Wiley Periodicals, Inc.

KEYWORDS:

Camurati-Engelman; TGFB1; mutation; obesity

PMID:
23824952
[PubMed - indexed for MEDLINE]
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