Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Arq Bras Endocrinol Metabol
; 54(5): 482-7, 2010.
Article
en En
| MEDLINE
| ID: mdl-20694410
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 ANDMETHODS:
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hormonas Hipofisarias
/
Proteínas de Homeodominio
/
Displasia Septo-Óptica
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Arq Bras Endocrinol Metabol
Año:
2010
Tipo del documento:
Article
País de afiliación:
Brasil