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: | Repositório Institucional da UFMG |
Texto Completo: | https://doi.org/10.1590/1678-4685-GMB-2018-0197 http://hdl.handle.net/1843/69089 https://orcid.org/0000-0001-7133-863X https://orcid.org/0000-0003-2567-7360 https://orcid.org/0000-0002-3585-4917 |
Resumo: | 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 receptorGeneticsHormônio do CrescimentoReceptores da SomatotropinaGenéticaSíndrome de LaronLaron’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.CNPq - Conselho Nacional de Desenvolvimento Científico e TecnológicoFAPESP - Fundação de Amparo à Pesquisa do Estado de São PauloUniversidade Federal de Minas GeraisBrasilMED - DEPARTAMENTO DE PEDIATRIAUFMG2024-06-11T15:43:45Z2024-06-11T15:43:45Z2019info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlepdfapplication/pdfhttps://doi.org/10.1590/1678-4685-GMB-2018-01971678-4685http://hdl.handle.net/1843/69089https://orcid.org/0000-0001-7133-863Xhttps://orcid.org/0000-0003-2567-7360https://orcid.org/0000-0002-3585-4917engGenetics and Molecular BiologyThais R. VillelaBruna L. FreireNathalia T. P. BragaRodrigo R. ArantesMariana F. A. FunariAlexander A. L. JorgeIvani Novato Silvainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFMGinstname:Universidade Federal de Minas Gerais (UFMG)instacron:UFMG2024-06-11T15:43:46Zoai:repositorio.ufmg.br:1843/69089Repositório InstitucionalPUBhttps://repositorio.ufmg.br/oairepositorio@ufmg.bropendoar:2024-06-11T15:43:46Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG)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 Thais R. Villela Laron Syndrome Growth hormone Growth hormone receptor Genetics Hormônio do Crescimento Receptores da Somatotropina Genética Síndrome de Laron |
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 |
Thais R. Villela |
author_facet |
Thais R. Villela Bruna L. Freire Nathalia T. P. Braga Rodrigo R. Arantes Mariana F. A. Funari Alexander A. L. Jorge Ivani Novato Silva |
author_role |
author |
author2 |
Bruna L. Freire Nathalia T. P. Braga Rodrigo R. Arantes Mariana F. A. Funari Alexander A. L. Jorge Ivani Novato Silva |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Thais R. Villela Bruna L. Freire Nathalia T. P. Braga Rodrigo R. Arantes Mariana F. A. Funari Alexander A. L. Jorge Ivani Novato Silva |
dc.subject.por.fl_str_mv |
Laron Syndrome Growth hormone Growth hormone receptor Genetics Hormônio do Crescimento Receptores da Somatotropina Genética Síndrome de Laron |
topic |
Laron Syndrome Growth hormone Growth hormone receptor Genetics Hormônio do Crescimento Receptores da Somatotropina Genética Síndrome de Laron |
description |
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 2024-06-11T15:43:45Z 2024-06-11T15:43:45Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.1590/1678-4685-GMB-2018-0197 1678-4685 http://hdl.handle.net/1843/69089 https://orcid.org/0000-0001-7133-863X https://orcid.org/0000-0003-2567-7360 https://orcid.org/0000-0002-3585-4917 |
url |
https://doi.org/10.1590/1678-4685-GMB-2018-0197 http://hdl.handle.net/1843/69089 https://orcid.org/0000-0001-7133-863X https://orcid.org/0000-0003-2567-7360 https://orcid.org/0000-0002-3585-4917 |
identifier_str_mv |
1678-4685 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Biology |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
pdf application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Federal de Minas Gerais Brasil MED - DEPARTAMENTO DE PEDIATRIA UFMG |
publisher.none.fl_str_mv |
Universidade Federal de Minas Gerais Brasil MED - DEPARTAMENTO DE PEDIATRIA UFMG |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UFMG instname:Universidade Federal de Minas Gerais (UFMG) instacron:UFMG |
instname_str |
Universidade Federal de Minas Gerais (UFMG) |
instacron_str |
UFMG |
institution |
UFMG |
reponame_str |
Repositório Institucional da UFMG |
collection |
Repositório Institucional da UFMG |
repository.name.fl_str_mv |
Repositório Institucional da UFMG - Universidade Federal de Minas Gerais (UFMG) |
repository.mail.fl_str_mv |
repositorio@ufmg.br |
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1816829630248648704 |