The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency1
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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“The abovementioned high degree of homology and tandem configuration make this region particularly prone to meiotic misalignment, which fosters recurrent recombination through unequal crossover and gene conversion. These processes constitute the predominant mechanisms underlying pathogenic variants in 21-OHD (16–19).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [18]
In the citing paper
“Overall, 90–95% of pathogenic CYP21A2 variants arise from intergenic recombination between the active gene and its pseudogene within the RCCX module.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [18]
In the citing paper
“Functional in vitro studies have allowed classification of CYP21A2 pathogenic variants into four groups based on residual enzymatic activity: group 0 (null, 0%), group A (<2%), group B (3-7%), and group C (20-60%), as summarized in Table 1 (18, 31, 48–50).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [18]
Citations
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Genotyping steroid 21-hydroxylase deficiency: hormonal reference data
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Steroid 21-hydroxylase deficiency: genotype may not predict phenotype
Wilson, R. C. (1995) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.80.8.2322 · Cited by 324
RADIOIMMUNOASSAY OF STEROIDS IN BIOLOGICAL MATERIALS
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Self-citationExtraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
Gomes, L. G., Huang, N., Agrawal, V., Mendonça, B. B., Bachega, T. A. S. S., & Miller, W. L. (2009) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1174 · Cited by 91
Self-citation
Metadata
- 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.
- 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
- 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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