Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Detalhes bibliográficos
Autor(a) principal: Thais R. Villela
Data de Publicação: 2019
Outros Autores: Bruna L. Freire, Nathalia T. P. Braga, Rodrigo R. Arantes, Mariana F. A. Funari, Alexander A. L. Jorge, Ivani Novato Silva
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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spelling 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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