Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency
Abstract
The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G substitution in intron 2, the deletion of the CYP21 gene and a T-A substitution in exon 4 in the severe form of the disease, and a G-T substitution in exon 7 in the nonclassic form. The correlation between the genotypes and the clinical forms of the disease showed marked variation in the phenotype from a single genotype, suggesting that individual variation and undetected additional mutations on the same CAH chromosome accounted for the phenotype. In 65 informative meioses of CAH families, no de novo mutation was found.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The intron 2 G mutation has been seen in both SW and SV patients, suggesting that there is a small amount of normally-spliced mRNA, and it is generally considered its own separate Group A.
“It has been seen in both SW and SV patients, suggesting that there is a small amount of normally-spliced mRNA; it is generally considered its own separate Group A (in the first analysis of this sort (195), Groups 0 and A were referred to as Groups A1 and A2, respectively).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [195]
In descending order of compromised 21-hydroxylase activity, 4 general groups of CYP21A2 mutations have been established to predict the phenotype.
“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 [195]
In both American and German data, median Prader virilization scores for females in Groups 0, A, B and C are 4 (3-5), 4 (3-5), 3 (2-4) and 0 (0-2) respectively.
“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 [195]
Basal levels of 17OHP are also correlated with genotype, 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.
“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 [195]
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.
“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 [195]
The citation lists haven’t been fetched yet
References 36 · Cited by 68
- Authors
- Barbat, B., Bogyo, A., Raux-Demay, M.-C., Kuttenn, F., Boué, J., Simon-Bouy, B., Serre, J.-L., Boué, A., & Mornet, E.
- Affiliations
- Château de Longchamp (FR)
- Hôpital Armand-Trousseau (FR)
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 1995
- Volume
- 5
- Issue
- 2
- Pages
- 126-130
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2002884605
- Cited by
- 68
- References
- 36
- Citations by year
- 2023: 1 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 2 · 2017: 5 · 2016: 1 · 2015: 1 · 2014: 2 · 2012: 2
- FWCI
- 1.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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
- CYP21, 21-hydroxylase deficiency, congenital adrenal hyperplasia, genetic mutations, mutation frequency, genotype-phenotype correlation, genotype heterogeneity, exon 4 deletion, de novo mutations, French patients
- MeSH terms
- Adrenal Hyperplasia, Congenital, Alleles, Base Sequence, Female, France, Humans, Male, Meiosis, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Pedigree, Steroid 21-Hydroxylase, Blotting, Southern
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
