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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/69089
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dc.creatorThais R. Villelapt_BR
dc.creatorBruna L. Freirept_BR
dc.creatorNathalia T. P. Bragapt_BR
dc.creatorRodrigo R. Arantespt_BR
dc.creatorMariana F. A. Funaript_BR
dc.creatorAlexander A. L. Jorgept_BR
dc.creatorIvani Novato Silvapt_BR
dc.date.accessioned2024-06-11T15:43:45Z-
dc.date.available2024-06-11T15:43:45Z-
dc.date.issued2019-
dc.citation.volume42pt_BR
dc.citation.issue4pt_BR
dc.citation.spagee20180197pt_BR
dc.citation.epage6pt_BR
dc.identifier.doihttps://doi.org/10.1590/1678-4685-GMB-2018-0197pt_BR
dc.identifier.issn1678-4685pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/69089-
dc.description.resumoLaron’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.pt_BR
dc.description.sponsorshipCNPq - Conselho Nacional de Desenvolvimento Científico e Tecnológicopt_BR
dc.description.sponsorshipFAPESP - Fundação de Amparo à Pesquisa do Estado de São Paulopt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofGenetics and Molecular Biologypt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectLaron Syndromept_BR
dc.subjectGrowth hormonept_BR
dc.subjectGrowth hormone receptorpt_BR
dc.subjectGeneticspt_BR
dc.subject.otherHormônio do Crescimentopt_BR
dc.subject.otherReceptores da Somatotropinapt_BR
dc.subject.otherGenéticapt_BR
dc.subject.otherSíndrome de Laronpt_BR
dc.titleGrowth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patientspt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.scielo.br/j/gmb/a/yqRPSWFsQCJvzkRK3DjL5Cp/?lang=enpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0001-7133-863Xpt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-2567-7360pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0002-3585-4917pt_BR
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