Atypical Generalized Lipoatrophy and Severe Insulin Resistance due to a Heterozygous LMNA p.T101 Mutation

Atypical Generalized Lipoatrophy and Severe Insulin Resistance due to a Heterozygous LMNA p.T101 Mutation

Alternative title Lipoatrofia generalizada atípica e resistência insulínica grave devido à mutação p.T10I em heterozigose no gene LMNA
Author Mory, Patricia Barretto Autor UNIFESP Google Scholar
Crispim, Felipe Autor UNIFESP Google Scholar
Kasamatsu, Teresa Sayoko Autor UNIFESP Google Scholar
Gabbay, Monica Andrade Lima Autor UNIFESP Google Scholar
Dib, Sergio Atala Autor UNIFESP Google Scholar
Moises, Regina S. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called laminopathies. Here we describe the case of a 15-year-old girl who was referred to our service due to diabetes mellitus and severe hypertriglyceridemia. Physical examination revealed generalized loss of subcutaneous fat, confirmed by DEXA (total body fat 8.6%). As the patient presented with pubertal-onset of generalized lipodystrophy and insulin resistance, molecular analysis of the LMNA gene was performed. We identified a heterozygous substitution in exon 1 (c.29C > T) predicting a p.T101 mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T101 mutation in LMNA gene. (Arq Bras Endocrinol Metab 2008; 52/8:1252-1256)
Keywords Lamin A/C
Lipodystrophy
Insulin resistance
LMNA gene
Language English
Date 2008-11-01
Published in Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 52, n. 8, p. 1252-1256, 2008.
ISSN 0004-2730 (Sherpa/Romeo, impact factor)
Publisher Sbem-soc Brasil Endocrinologia & Metabologia
Extent 1252-1256
Origin http://dx.doi.org/10.1590/S0004-27302008000800008
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000262313500008
SciELO ID S0004-27302008000800008 (statistics in SciELO)
URI http://repositorio.unifesp.br/11600/42702

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