Conflict of interest: none.
Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene
Article first published online: 3 JUL 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2074–2077, August 2013
How to Cite
2013. Camurati–Engelman disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. Am J Med Genet Part A. 161A:2074–2077., , .
- Issue published online: 24 JUL 2013
- Article first published online: 3 JUL 2013
- Manuscript Accepted: 1 APR 2013
- Manuscript Received: 19 NOV 2012
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.