Journal
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
Volume 54, Issue 5, Pages 482-487Publisher
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
DOI: 10.1590/S0004-27302010000500009
Keywords
DNA mutational analysis; septo-optic dysplasia; pituitary hormonal deficiency
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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 27T>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. Arq Bras Endocrinol Metab. 2010;54(5):482-7
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