Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. Issue 8 (3rd July 2013)

• Record Type: Journal Article
• Authors: Collet, Corinne; Laplanche, Jean‐Louis; de Vernejoul, Marie‐Christine
• Is Part Of: American journal of medical genetics. Volume 161:Issue 8(2013:Aug.)
• Page Start: 2074
• Page End: 2077
• Publication Date: 2013-07-03
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36022
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36022-sec-0001" sec-type="section"> <p>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 &gt; T mutation (which predicts p.Arg156Cys) in the latency associated protein (LAP)‐coding domain of the <italic>TGFB1</italic> 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.</p> </sec> </abstract>