Cited by 108Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1

Bachega, Tânia A. S. S., Billerbeck, Ana Elisa C., Madureira, Guiomar, Marcondes, José A. M., Longui, Carlos A., Leite, Maristela V., Arnhold, Ivo J. P., Mendonca, Berenice B.·1998·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jcem.83.12.5350

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Abstract

The aim of our study was to determine, by allele-specific PCR, the frequency of point mutations in 130 Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency and to correlate genotype with phenotype. The most frequent mutations were 12 splice (41.8% in salt wasting), I172N (32.6% in simple virilizing), and V281L (40.2% in late onset form). The frequency of the 9 most common point mutations was similar to that reported for other countries, except for Del 8 nt and Cluster, which were less frequent in the classical form. Rarer mutations such as P453S, G291S, I7 splice, W405X, R483P, and R483-->frameshift were rarely found or were absent. The 93 fully genotyped patients were classified into 3 mutation groups, based on the degree of enzymatic activity (group A, <2%; group B, approximately 2%, and group C, >18%). In group A, 62% of the cases presented the salt wasting form; in group B, 96% the simple virilizing form; and in group C, 88% the late onset form. We diagnosed 80% of the affected alleles after screening for large rearrangements and 15 point mutations. The absence of previously described mutations in 20% of the affected alleles suggests the presence of new mutations in our population.

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Authors: Bachega, T. A. S. S., Billerbeck, A. E. C., Madureira, G., Marcondes, J. A. M., Longui, C. A., Leite, M. V., Arnhold, I. J. P., & Mendonca, B. B.
Affiliations: Universidade de São Paulo (BR)
Irmandade da Santa Casa de Misericórdia de São Paulo (BR)
Universidade Federal do Rio Grande do Norte (BR)
Corresponding author: Mendonca, Berenice B.
ORCID: Bachega, Tânia A. S. S.
Longui, Carlos A.
Arnhold, Ivo J. P.
Mendonca, Berenice B.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 1998-12
Volume: 83
Issue: 12
Pages: 4416-4419
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jcem.83.12.5350
OpenAlex: W2059566069
Cited by: 108
References: 21
Citations by year: 2026: 1 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 2 · 2016: 6 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 6
FWCI: 1.17
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Funders: Strong
Fundação de Amparo à Pesquisa do Estado de São Paulo
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: 21-hydroxylase deficiency, CYP21A2 mutations, point mutations, splice site mutation, genotype-phenotype correlation, salt wasting, late onset, novel mutations, mutation frequency, Brazilian patients
MeSH terms: Adrenal Hyperplasia, Congenital, Alleles, Brazil, Female, Gene Frequency, Genotype, Humans, Male, Phenotype, Steroid 21-Hydroxylase, Cohort Studies, Point Mutation

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Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1

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