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

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.Arg...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-08, Vol.161A (8), p.2074-2077
Main Authors: Collet, Corinne, Laplanche, Jean-Louis, de Vernejoul, Marie-Christine
Format: Article
Language:English
Subjects:
Adult
Body weight
Camurati-Engelman
Camurati-Engelmann Syndrome - complications
Camurati-Engelmann Syndrome - diagnosis
Camurati-Engelmann Syndrome - genetics
Child
Female
Heterozygote
Humans
Male
Middle Aged
mutation
Mutation, Missense - genetics
obesity
Obesity - complications
Obesity - diagnosis
Obesity - genetics
Pedigree
Phenotype
TGFB1
Transforming Growth Factor beta1 - genetics
Young Adult
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36022