Data/hora: 06/06/2024 11:28:07

Provedor de dados: | 74
País: | Brazil
Título: | Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Autores: | Villela,Thais R.; Freire,Bruna L.; Braga,Nathalia T. P.; Arantes,Rodrigo R.; Funari,Mariana F. A.; Alexander,Jorge A L; Silva,Ivani N.
Data: | 2019-01-01
Ano: | 2019
Palavras-chave: | Laron Syndrome; Growth hormone; Growth hormone receptor; Genetics.
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&gt;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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2018-0197
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.42 n.4 2019
Fonte: | info:eu-repo/semantics/openAccess