Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Détails
ID Serval
serval:BIB_A798727BB3F3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Périodique
Arquivos brasileiros de endocrinologia e metabologia
ISSN
1677-9487 (Electronic)
ISSN-L
0004-2730
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
54
Numéro
5
Pages
482-487
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced.
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.
Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.
In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced.
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.
Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.
Mots-clé
Adolescent, Child, Child, Preschool, Female, Homeodomain Proteins/genetics, Humans, Infant, Male, Mutation, Pituitary Hormones/deficiency, Pituitary Hormones/genetics, Polymerase Chain Reaction, Polymorphism, Genetic, Septo-Optic Dysplasia/blood, Septo-Optic Dysplasia/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/12/2020 16:54
Dernière modification de la notice
29/12/2020 7:26
Données d'usage
