Abstract
Objective: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. Subjects and methods: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. Results: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. Conclusion: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process. Copyright
| Translated title of the contribution | Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency |
|---|---|
| Original language | Portuguese |
| Pages (from-to) | 482-487 |
| Number of pages | 6 |
| Journal | Arquivos brasileiros de endocrinologia e metabologia |
| Volume | 54 |
| Issue number | 5 |
| DOIs | |
| State | Published - 2010 |
Keywords
- Análise mutacional do DNA
- DNA mutational analysis
- Deficiência hormonal hipofisária
- Displasia septo-óptica
- Pituitary hormonal deficiency
- Septo-optic dysplasia
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
