Camurati-Engelmann Disease With Obesity in a Newly Identified Family Carrying a Missense p.Arg156Cys Mutation in the TGFB1 Gene

被引：9

作者：

Collet, Corinne ^{[1
,2
]}

Laplanche, Jean-Louis ^{[1
]}

de Vernejoul, Marie-Christine ^{[2
]}

机构：

[1] GH St Louis Lariboisiere Fernand Widal, Serv Biochim & Biol Mol, UF Genet Mol, INSERM,U606, Paris, France

[2] Paris Diderot Univ, GH St Louis Lariboisiere Fernand Widal, Serv Rhumatol, INSERM,U606, Paris, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 08期

关键词：

Camurati-Engelman; mutation; obesity; TGFB1; RIBBING-DISEASE;

D O I：

10.1002/ajmg.a.36022

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 (C) 2013 Wiley Periodicals, Inc.

引用

页码：2074 / 2077

页数：4

共 18 条

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