Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199167
Type: Artigo de periódico
Title: Structural Aspects Of The P.p222q Homozygous Mutation Of Hsd3b2 Gene In A Patient With Congenital Adrenal Hyperplasia.
Author: Lusa, Letícia Gori
Lemos-Marini, Sofia Helena Valente de
Soardi, Fernanda Caroline
Ferraz, Lucio Fabio Caldas
Guerra-Júnior, Gil
Mello, Maricilda Palandi de
Abstract: Type II 3β-hydroxysteroid dehydrogenase/Δ(5)-Δ(4)-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing. Here we report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child, who was born from consanguineous parents, and presented with ambiguous genitalia and salt losing. The patient carries a homozygous nucleotide c.665C>A change in exon 4 that putatively substitutes the proline at codon 222 for glutamine. Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations.
Subject: 3-hydroxysteroid Dehydrogenases
Adrenal Hyperplasia, Congenital
Codon
Homozygote
Humans
Infant, Newborn
Male
Mutation, Missense
Progesterone Reductase
Citation: Arquivos Brasileiros De Endocrinologia E Metabologia. v. 54, n. 8, p. 768-74, 2010-Nov.
Rights: aberto
Address: http://www.ncbi.nlm.nih.gov/pubmed/21340167
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
pmed_21340167.pdf1.33 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.