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

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.

• Authors: Juliana B Cruz, Vania S Nunes, Sueli A Clara, Denise Perone, Peter Kopp, Célia R Nogueira
• Journal: Arquivos brasileiros de endocrinologia e metabologia (Arq Bras Endocrinol Metabol) Vol. 54 Issue 5 Pg. 482-7 ( 2010) ISSN: 1677-9487 [Electronic] Brazil
• PMID: 20694410 (Publication Type: Journal Article)

Chemical References

• HESX1 protein, human
• Homeodomain Proteins
• Pituitary Hormones
• Prophet of Pit-1 protein

Topics

• Adolescent
• Child
• Child, Preschool
• Female
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Male
• Mutation
• Pituitary Hormones (deficiency, genetics)
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Septo-Optic Dysplasia (blood, genetics)