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Type: Artigo de periódico
Title: H28+c Insertion In The Cyp21 Gene: A Novel Frameshift Mutation In A Brazilian Patient With The Classical Form Of 21-hydroxylase Deficiency.
Author: Lau, I F
Soardi, F C
Lemos-Marini, S H
Guerra Jr, G
Baptista, M T
De Mello, M P
Abstract: In the classical form of 21-hydroxylase deficiency, CYP21- affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect. The present paper describes a new mutation disclosed by sequencing an entire gene in which no pseudogene-originated mutation had been found. The patient with the classical form of 21-hydroxylase deficiency is the daughter of a consanguineous marriage, and she is homozygous for a novel frameshift H28+C within exon 1. The mutation causes a stop codon at amino acid 78. Both parents are heterozygous for the mutation as confirmed by allele-specific oligonucleotide PCR. The H28+C is not present in the published CYP21P sequences and is likely to result in an enzyme with no activity.
Subject: Adrenal Hyperplasia, Congenital
Base Sequence
Dna Transposable Elements
Frameshift Mutation
Infant, Newborn
Molecular Sequence Data
Steroid 21-hydroxylase
Citation: The Journal Of Clinical Endocrinology And Metabolism. v. 86, n. 12, p. 5877-80, 2001-Dec.
Rights: fechado
Identifier DOI: 10.1210/jcem.86.12.8113
Date Issue: 2001
Appears in Collections:Unicamp - Artigos e Outros Documentos

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