Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102 |
Resumo: | Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands’ samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date. |
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Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patientsLaron Syndromegrowth hormonegrowth hormone receptorgeneticsAbstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands’ samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date.Sociedade Brasileira de Genética2019-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102Genetics and Molecular Biology v.42 n.4 2019reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2018-0197info:eu-repo/semantics/openAccessVillela,Thais R.Freire,Bruna L.Braga,Nathalia T. P.Arantes,Rodrigo R.Funari,Mariana F. A.Alexander,Jorge A LSilva,Ivani N.eng2020-01-31T00:00:00Zoai:scielo:S1415-47572019000500102Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2020-01-31T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
title |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
spellingShingle |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients Villela,Thais R. Laron Syndrome growth hormone growth hormone receptor genetics |
title_short |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
title_full |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
title_fullStr |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
title_full_unstemmed |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
title_sort |
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients |
author |
Villela,Thais R. |
author_facet |
Villela,Thais R. Freire,Bruna L. Braga,Nathalia T. P. Arantes,Rodrigo R. Funari,Mariana F. A. Alexander,Jorge A L Silva,Ivani N. |
author_role |
author |
author2 |
Freire,Bruna L. Braga,Nathalia T. P. Arantes,Rodrigo R. Funari,Mariana F. A. Alexander,Jorge A L Silva,Ivani N. |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Villela,Thais R. Freire,Bruna L. Braga,Nathalia T. P. Arantes,Rodrigo R. Funari,Mariana F. A. Alexander,Jorge A L Silva,Ivani N. |
dc.subject.por.fl_str_mv |
Laron Syndrome growth hormone growth hormone receptor genetics |
topic |
Laron Syndrome growth hormone growth hormone receptor genetics |
description |
Abstract Laron’s syndrome (LS) is a rare genetic disorder characterized by insensitivity to growth hormone (GH). Up to the present time, over 70 mutations of GH receptor (GHR) gene have been identified leading to GH/insulin-like growth factor type 1 (IGF1) signaling pathway defect. The number of LS patients worldwide is unknown, as many are probably undiagnosed. We report two sibs from a consanguineous family from Minas Gerais, southeastern Brazil. The parents have three children. The older, a 4-years-old girl was 80.2 cm tall (-5.7 SDS height/age), and the youngest sister, aged 3 years, was 73.2 cm tall (-5.82 SDS height/age). Their clinical and biochemical features are typical of LS patients, such as high serum level of GH and low IGF1 concentrations. A homozygous c.1A>T nucleotide substitution in GHR exon 2 in the probands’ samples was identified. Their parents and healthy sister are heterozygous for the same variant that abolishes the translation initiation codon of GHR. This mutation has not been reported in Brazilian patients and was previously associated with an LS phenotype in a single 29-year-old Spanish man. In addition to this case report, we summarize the main characteristics and molecular data of the 21 LS Brazilian patients who have been published to date. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-01-01 |
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=S1415-47572019000500102 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2018-0197 |
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 Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.42 n.4 2019 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122389365260288 |