Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Details
Serval ID
serval:BIB_A798727BB3F3
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Journal
Arquivos brasileiros de endocrinologia e metabologia
ISSN
1677-9487 (Electronic)
ISSN-L
0004-2730
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
54
Number
5
Pages
482-487
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
Keywords
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
Yes
Create date
28/12/2020 16:54
Last modification date
29/12/2020 7:26
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