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Keywords:

  • Camurati–Engelman;
  • mutation;
  • obesity;
  • TGFB1

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.