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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations
Open accessAbstract
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. The aim of this study was to assess the frequencies of CYP21 mutations and to study genotype-phenotype correlation in a large population of Dutch 21-hydroxylase deficient patients. From 198 patients with 21-hydroxylase deficiency, 370 unrelated alleles were studied. Gene deletion/conversion was present in 118 of the 370 alleles (31.9%). The most frequent point mutations were I2G (28.1%) and I172N (12.4%). Clustering of pseudogene-derived mutations in exons 7 and 8 (V281L-F306 + 1nt-Q318X-R356W) on a single allele was found in seven unrelated alleles (1.9%). This cluster had been reported before in two other Dutch patients and in two patients in a study from New York, but not in other series worldwide. Six novel mutations were found: 995-996insA, 1123delC, G291R, S301Y, Y376X, and R483Q. Genotype-phenotype correlation (in 87 well documented patients) showed that 28 of 29 (97%) patients with two null mutations and 23 of 24 (96%) patients with mutation I2G (homozygous or heterozygous with a null mutation) had classic salt wasting. Patients with mutation I172N (homozygous or heterozygous with a null or I2G mutation) had salt wasting (2 of 17, 12%), simple virilizing (10 of 17, 59%), or nonclassic CAH (5 of 17, 29%). All six patients with mutation P30L, V281L, or P453S (homozygous or compound heterozygous) had nonclassic CAH. The frequency of CYP21 mutations and the genotype-phenotype correlation in 21-hydroxylase deficient patients in The Netherlands show in general high concordance with previous reports from other Western European countries. However, a cluster of four pseudogene-derived point mutations on exons 7 and 8 on a single allele, observed in almost 2% of the unrelated alleles, seems to be particular for the Dutch population and six novel CYP21 gene mutations were found.
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“In both American(195,223) and German (201) data, median (interquartile range) Prader virilization scores (Figure4) for females in Groups 0, A, B and C are 4 (3-5), 4 (3-5), 3 (2-4) and 0 (0-2) respectively.(201).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [201]
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“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 [201]
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“Basal levels of 17OHP are also correlated with genotype(195,200,201,225), with different studies reporting mean levels (in ng/dl) in Groups 0/A, B and C of 23-41,000, 10-18,000, and 3-8000, respectively.”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [201]
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“In descending order of compromised 21-hydroxylase activity, 4 general groups of CYP21A2 mutations have been established to predict the phenotype (Figure 3) (195,196,201,203,208,213,216).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [201]
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Metadata
- Authors
- Stikkelbroeck, N. M. M. L., Hoefsloot, L. H., de Wijs, I. J., Otten, B. J., Hermus, A. R. M. M., & Sistermans, E. A.
- Affiliations
- Radboud University Nijmegen (NL)
- Human Genetics (E.A.S., I.J.d.W., L.H.H.), 6500 HB Nijmegen, The Netherlands
- Departments of Pediatric Endocrinology (N.M.M.L.S., B.J.O.), 6500 HB Nijmegen, The Netherlands
- Endocrinology (A.R.M.M.H.), University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
- Corresponding author
- Sistermans, Erik A.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2003-08-01
- Volume
- 88
- Issue
- 8
- Pages
- 3852-3859
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2138979064
- Cited by
- 171
- References
- 54
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 3 · 2023: 9 · 2022: 7 · 2021: 6 · 2020: 8 · 2019: 14 · 2018: 5 · 2017: 5 · 2016: 11 · 2015: 5 · 2014: 6 · 2013: 11 · 2012: 11
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- 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, congenital adrenal hyperplasia, CYP21 mutations, genotype-phenotype correlation, novel mutations, mutation clustering, salt wasting, compound heterozygosity, Dutch patients, mutation frequency, gene conversion
- MeSH terms
- Adrenal Hyperplasia, Congenital, Alleles, DNA Mutational Analysis, Multigene Family, Genotype, Humans, Mutation, Netherlands, Pedigree, Phenotype, Steroid 21-Hydroxylase, Frameshift Mutation, DNA, Complementary
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