CoChat
Sign Up
Cited by 74Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation

Baumgartner-Parzer, S. M., Schulze, E., Waldhäusl, W., Pauschenwein, S., Rondot, S., Nowotny, P., Meyer, K., Frisch, H. +2 more·2001·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jcem.86.10.7898
Open this paper in CoChat — free account

Abstract

This study attempted an analysis of the mutational spectrum of 21-hydroxylase deficiency in 79 unrelated Austrian patients with classical and nonclassical forms of congenital adrenal hyperplasia and their respective 112 family members. Apparent large gene deletions/conversions were present in 31% of the 158 unrelated congenital adrenal hyperplasia alleles, whereas the most frequent point mutations were intron 2 splice (22.8%), I172N (15.8%), V281L (12%), and P30L (7.6%), in line with the frequencies reported for other countries. In 5 of the 12 congenital adrenal hyperplasia alleles carrying a P30L mutation the aberration is based on a single base substitution, whereas the remaining 7 represent part of a CYP21B conversion (1 allele) or CYP21B/21A hybrid gene (6 alleles), the latter characterized by a junction site before intron 2 as indicated by Southern blot, PCR, and sequence analyses. Previously described mutations were not present in 1.2% of unrelated congenital adrenal hyperplasia alleles, including one female patient presenting with severe genital virilization. Sequence analysis of the complete functional 21-hydroxylase gene revealed an as yet undescribed mutation in exon 10-Arg(426)His, which has not yet been described to represent a common pseudogene sequence. In vitro expression experiments showed the Arg(426)His mutant to exhibit only low enzyme activity toward the natural substrate 17-hydroxyprogesterone corresponding to the degree of disease manifestation in the patient in whom it was found.

Integrity signals

Registry

Crossref · 10.1210/jcem.86.10.7898

Cites

29 of 29 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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 p.(Arg426His) variant is described in Austrian and Spanish cohorts, where it consistently correlates with the salt-wasting phenotype and severe enzymatic impairment.

    “The p.(Arg426His) variant demonstrates a similar founder pattern, described in Austrian and Spanish cohorts, where it consistently correlates with the salt-wasting phenotype and severe enzymatic impairment (41, 44).”

    From Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques (2026) · cites this paper as [44]

  • 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 [200]

  • 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 [200]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Related

Authors
Baumgartner-Parzer, S. M., Schulze, E., Waldhäusl, W., Pauschenwein, S., Rondot, S., Nowotny, P., Meyer, K., Frisch, H., Waldhauser, F., & Vierhapper, H.
Affiliations
  • University of Vienna (AT)
  • Heidelberg University (DE)
Corresponding author
Baumgartner-Parzer, S. M.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2001-10
Volume
86
Issue
10
Pages
4771-4775
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jcem.86.10.7898
OpenAlex
W1971168917
Cited by
74
References
29
Citations by year
2026: 1 · 2025: 1 · 2023: 1 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 4 · 2014: 2 · 2013: 2 · 2012: 4
FWCI
1.50
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (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
21-hydroxylase deficiency, CYP21A2, congenital adrenal hyperplasia, mutation spectrum, novel missense mutation, pseudogenes, gene conversion, splice site mutation, 17-hydroxyprogesterone, enzyme activity, Austrian patients
MeSH terms
Adrenal Hyperplasia, Congenital, Alleles, Female, Genotype, Humans, Male, Steroid 21-Hydroxylase, Polymerase Chain Reaction, Mutation, Missense

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