Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation
Autor(a) principal: | |
---|---|
Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800008 |
Resumo: | 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.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene. |
id |
SBEM-2_b24ebd4c7b8809c326d9f629500010e0 |
---|---|
oai_identifier_str |
oai:scielo:S0004-27302008000800008 |
network_acronym_str |
SBEM-2 |
network_name_str |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
repository_id_str |
|
spelling |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutationLamin A/CLipodystrophyInsulin resistanceLMNA geneLipodystrophies 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.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene.Sociedade Brasileira de Endocrinologia e Metabologia2008-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800008Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.1590/S0004-27302008000800008info:eu-repo/semantics/openAccessMory,Patricia B.Crispim,FelipeKasamatsu,TeresaGabbay,Monica A. L.Dib,Sergio A.Moisés,Regina S.eng2009-01-16T00:00:00Zoai:scielo:S0004-27302008000800008Revistahttps://www.aem-sbem.com/ONGhttps://old.scielo.br/oai/scielo-oai.php||abem-editoria@endocrino.org.br1677-94870004-2730opendoar:2009-01-16T00:00Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
title |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
spellingShingle |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation Mory,Patricia B. Lamin A/C Lipodystrophy Insulin resistance LMNA gene |
title_short |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
title_full |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
title_fullStr |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
title_full_unstemmed |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
title_sort |
Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation |
author |
Mory,Patricia B. |
author_facet |
Mory,Patricia B. Crispim,Felipe Kasamatsu,Teresa Gabbay,Monica A. L. Dib,Sergio A. Moisés,Regina S. |
author_role |
author |
author2 |
Crispim,Felipe Kasamatsu,Teresa Gabbay,Monica A. L. Dib,Sergio A. Moisés,Regina S. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Mory,Patricia B. Crispim,Felipe Kasamatsu,Teresa Gabbay,Monica A. L. Dib,Sergio A. Moisés,Regina S. |
dc.subject.por.fl_str_mv |
Lamin A/C Lipodystrophy Insulin resistance LMNA gene |
topic |
Lamin A/C Lipodystrophy Insulin resistance LMNA gene |
description |
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.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-11-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-27302008000800008 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia v.52 n.8 2008 reponame:Arquivos Brasileiros de Endocrinologia & Metabologia (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
collection |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) |
repository.name.fl_str_mv |
Arquivos Brasileiros de Endocrinologia & Metabologia (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||abem-editoria@endocrino.org.br |
_version_ |
1754734810116390912 |