Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

• Autor(a) principal: Cruz, Juliana B. [UNESP]
• Data de Publicação: 2010
• Outros Autores: Nunes, Vânia dos Santos [UNESP], Clara, Sueli A. [UNESP], Perone, Denise [UNESP], Kopp, Peter, Nogueira, Célia Regina [UNESP]
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNESP
• Texto Completo: http://dx.doi.org/10.1590/S0004-27302010000500009; http://hdl.handle.net/11449/180905
• topic: DNA mutational analysis; Septo-optic dysplasia; Pituitary hormonal deficiency; Análise mutacional do DNA; Displasia septo-óptica; Deficiência hormonal hipofisária

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.