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. 2010;54(5):482-7.
doi: 10.1590/s0004-27302010000500009.

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

Juliana B Cruz  1 , Vania S Nunes, Sueli A Clara, Denise Perone, Peter Kopp, Célia R Nogueira
Affiliations

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

Juliana B Cruz et al. Arq Bras Endocrinol Metabol. 2010.

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.

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