Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene.

Details

Serval ID
serval:BIB_C444900ACC76
Type
Article: article from journal or magazin.
Collection
Publications
Title
Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene.
Journal
Molecular genetics and metabolism
Author(s)
Nogueira C.R., Sabacan L., Jameson J.L., Medeiros-Neto G., Kopp P.
ISSN
1096-7192 (Print)
ISSN-L
1096-7192
Publication state
Published
Issued date
05/1999
Peer-reviewed
Oui
Volume
67
Number
1
Pages
58-61
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
Publication Status: ppublish
Abstract
Mutations in the pituitary-specific paired-like homeodomain transcription factor PROP-1 result in combined pituitary hormone deficiency (CPHD) which includes all anterior pituitary hormones with the exception of ACTH. In an inbred pedigree with CPHD, direct sequencing of the PROP-1 gene revealed a deletion of two base pairs (301-302delAG) in exon 2, resulting in a frameshift and a premature stop in codon 109 in the homeodomain. The clinical characteristics of this family support the notion that this truncation results in a more severe phenotype than missense mutations in the aminoterminal part of the homeodomain.
Keywords
Adult, Base Sequence, Brazil, Child, Chromosomes, Human, Pair 5, Consanguinity, DNA Mutational Analysis, Exons, Female, Genetic Linkage, Homeodomain Proteins/genetics, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Pituitary Hormones/deficiency
Pubmed
Web of science
Create date
30/12/2020 15:23
Last modification date
31/12/2020 6:26
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