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Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany
Abstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients. We were able to elucidate 306 of 310 disease-causing alleles (diagnostic sensitivity, 98.7%). The most frequent mutation was the intron 2 splice site mutation (30.3%), followed by gene deletions (20.3%), the I172N mutation (19.7%) and large gene conversions (7.1%). Five point mutations were detected that have not been described in other CAH cohorts. Genotypes were categorized in 4 mutation groups (null, A, B, and C) according to their predicted functional consequences and compared to the clinical phenotype. The positive predictive value for null mutations (ppvnull) was 100%, as all patients with these mutations had a salt-wasting phenotype. In mutation group A (intron 2 splice site mutation in homozygous or heterozygous form with a null mutation), the ppvA to manifest with salt-wasting CAH was 90%. In group B predicted to result in simple virilizing CAH (I172N in homozygous or compound heterozygous form with a more severe mutation), ppvB was 74%. In group C (P30L, V281L, P453S in homozygous or compound heterozygous form with a more severe mutation), ppvC was 64.7% to exhibit the nonclassical form of CAH, but 90% when excluding the P30L mutation. Thus, in general, a good genotype-phenotype relationship is shown in patients with either the severest or the mildest mutations. A considerable degree of divergence is observed within mutation groups of intermediate severity. As yet undefined factors modifying 21-hydroxylase gene expression and steroid hormone action are likely to account for these differences in phenotypic expression.
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In the citing paper
“In European and North American population, where long-standing newborn screening programs facilitate early detection, large gene deletions and CYP21A1P/CYP21A2 chimeric conversions, predominantly associated with SW phenotypes, constitute 20-30% of pathogenic alleles (25, 28, 30, 31).”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [25]
In the citing paper
“Importantly, genotype-phenotype discordance in CAH reflects not only the primary CYP21A2 pathogenic variant but also allelic configuration (cis/trans), promoter strength, splicing efficiency, copy number variation, and extra-adrenal metabolism.”
From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [25]
In the citing paper
“Deletions, the splice site mutation in intron 2 (c.293-13A/C>G) and p.Ile172Asn (I172N) are the most common mutations in most populations (189,195-213).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [199]
In the citing paper
“Thus, approximately 75-80% of cases of 21-hydroxylase deficiency derive from micro-or macrogene conversion events where some or all of the CYP21A1P pseudogene replaces the corresponding area of the CYP21A2 gene, thus reduc-ing the expression of the encoded P450c21 protein and/or impairing its activity (352, 381).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [381]
In the citing paper
“A careful study of 155 German patients confirmed these results, finding gene deletions in 20.3%, large gene conversions in 7.1%, microconversions in 71.3% (intron 2 mutation in 30.3%;I172N in 19.7%), and uncharacterized mutations in 1.3% (381).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [381]
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Metadata
- Authors
- Krone, N., Braun, A., Roscher, A. A., Knorr, D., & Schwarz, H. P.
- Affiliations
- Ludwig-Maximilians-Universität München (DE)
- Corresponding author
- Schwarz, Hans Peter
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2000-03-01
- Volume
- 85
- Issue
- 3
- Pages
- 1059-1065
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2066497061
- Semantic Scholar
- a988cc456aad7cb2ff501db38740a080992699c6
- Cited by
- 397
- References
- 49
- Citations by year
- 2026: 9 · 2025: 13 · 2024: 10 · 2023: 15 · 2022: 9 · 2021: 27 · 2020: 17 · 2019: 21 · 2018: 10 · 2017: 11 · 2016: 25 · 2015: 12 · 2014: 19 · 2013: 21 · 2012: 16
- FWCI
- 3.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- 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
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21, genotype-phenotype correlation, CYP21 mutations, salt-wasting phenotype, compound heterozygosity, gene conversion, positive predictive value
- MeSH terms
- Adrenal Hyperplasia, Congenital, Alleles, DNA Mutational Analysis, Gene Frequency, Genotype, Germany, Humans, Mutation, Phenotype, Predictive Value of Tests, Steroid 21-Hydroxylase, Cohort Studies
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