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| Villela,Thais R.; Freire,Bruna L.; Braga,Nathalia T. P.; Arantes,Rodrigo R.; Funari,Mariana F. A.; Alexander,Jorge A L; Silva,Ivani N.. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Laron Syndrome; Growth hormone; Growth hormone receptor; Genetics. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500102 |
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| Scalco,Renata C.; Gonçalves,Fernanda T.; Santos,Hadassa C.; Cardena,Mari M. S. G.; Tonelli,Carlos A.; Funari,Mariana F. A.; Aracava,Rosana M.; Pereira,Alexandre C.; Fridman,Cintia; Jorge,Alexander A. L.. |
| ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Founder effect; Growth hormone insensitivity; Immune dysfunction; STAT5B. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436 |
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