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H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency

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 Brazilia... Full description

Journal Title: The journal of clinical endocrinology and metabolism 2001, Vol.86 (12), p.5877-5880
Main Author: LAU, Ivy F
Other Authors: SOARDI, Fernanda C , LEMOS-MARINI, Sofia H. V , GUERRA, Gil JR , BAPTISTA, Maria Tereza M , DE MELLO, Maricilda P
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: Bethesda, MD: Endocrine Society
ID: ISSN: 0021-972X
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recordid: cdi_proquest_miscellaneous_72343144
title: H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency
format: Article
creator:
  • LAU, Ivy F
  • SOARDI, Fernanda C
  • LEMOS-MARINI, Sofia H. V
  • GUERRA, Gil JR
  • BAPTISTA, Maria Tereza M
  • DE MELLO, Maricilda P
subjects:
  • Abridged Index Medicus
  • Adrenal Hyperplasia, Congenital
  • Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
  • Allele
  • Base Sequence - genetics
  • Biological and medical sciences
  • Brazil
  • Congenital Adrenal
  • DNA Transposable Elements
  • Endocrinopathies
  • Families
  • Female
  • Frameshift Mutation - genetics
  • Homozygote
  • Human Steroid 21
  • Humans
  • hydroxylase
  • hyperplasia
  • Identification
  • Infant, Newborn
  • Medical sciences
  • Molecular Sequence Data
  • Non tumoral diseases. Target tissue resistance. Benign neoplasms
  • P450c21
  • Pseudogene
  • Steroid 21-Hydroxylase - genetics
  • Tropical medicine
ispartof: The journal of clinical endocrinology and metabolism, 2001, Vol.86 (12), p.5877-5880
description: 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.
language: eng
source:
identifier: ISSN: 0021-972X
fulltext: no_fulltext
issn:
  • 0021-972X
  • 1945-7197
url: Link


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titleH28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency
creatorLAU, Ivy F ; SOARDI, Fernanda C ; LEMOS-MARINI, Sofia H. V ; GUERRA, Gil JR ; BAPTISTA, Maria Tereza M ; DE MELLO, Maricilda P
creatorcontribLAU, Ivy F ; SOARDI, Fernanda C ; LEMOS-MARINI, Sofia H. V ; GUERRA, Gil JR ; BAPTISTA, Maria Tereza M ; DE MELLO, Maricilda P
descriptionIn 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.
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languageeng
publisherBethesda, MD: Endocrine Society
subjectAbridged Index Medicus ; Adrenal Hyperplasia, Congenital ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Allele ; Base Sequence - genetics ; Biological and medical sciences ; Brazil ; Congenital Adrenal ; DNA Transposable Elements ; Endocrinopathies ; Families ; Female ; Frameshift Mutation - genetics ; Homozygote ; Human Steroid 21 ; Humans ; hydroxylase ; hyperplasia ; Identification ; Infant, Newborn ; Medical sciences ; Molecular Sequence Data ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; P450c21 ; Pseudogene ; Steroid 21-Hydroxylase - genetics ; Tropical medicine
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2LEMOS-MARINI, Sofia H. V
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descriptionIn 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.
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1Adrenal Hyperplasia, Congenital
2Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
3Allele
4Base Sequence - genetics
5Biological and medical sciences
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9Endocrinopathies
10Families
11Female
12Frameshift Mutation - genetics
13Homozygote
14Human Steroid 21
15Humans
16hydroxylase
17hyperplasia
18Identification
19Infant, Newborn
20Medical sciences
21Molecular Sequence Data
22Non tumoral diseases. Target tissue resistance. Benign neoplasms
23P450c21
24Pseudogene
25Steroid 21-Hydroxylase - genetics
26Tropical medicine
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titleH28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in a Brazilian Patient with the Classical Form of 21-Hydroxylase Deficiency
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abstractIn 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.
copBethesda, MD
pubEndocrine Society
pmid11739456
doi10.1210/jc.86.12.5877
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