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Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
Abstract
A method for genetic diagnosis of steroid 21-hydroxylase deficiency was developed based on allele-specific PCR. With this approach, genotyping of fourteen mutations and diagnosis of homozygous gene deletions can be performed within hours from tissue sampling. One patient with salt-wasting disease had normal genotype at all positions screened. DNA sequencing revealed two novel mutations, a G to C transversion at the conserved splice donor site of intron 7 and a TGG to TAG nonsense mutation at Trp 406 in exon 9. Allele-specific PCR was established also for these mutations and used to screen for their presence in the pseudogene. However, the two novel mutations were not found in at least 34 pseudogenes.
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“Other rare alleles, which are true mutations rather than gene conversions, have been described in single individuals (436 -440).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [438]
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432
Øverli, Ø., Sørensen, C., Pulman, K. G. T., Pottinger, T. G., Korzan, W. J., Summers, C. H., & Nilsson, G. (2006) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2006.10.006 · Cited by 518
“A multitude of genetic polymorphisms are known in this pathway in humans (see e.g. Wedell and Luthman, 1993; Stratakis and Rennert, 1999), which are all connected with debilitations in untreated patients.”
BackgroundWedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370
Self-citationTherrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344
Metadata
- Authors
- Wedell, A., & Luthman, H.
- Affiliations
- Karolinska University Hospital (SE)
- Corresponding author
- Luthman, Holger
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1993
- Volume
- 2
- Issue
- 5
- Pages
- 499-504
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2062953189
- Cited by
- 160
- References
- 0
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2018: 2 · 2017: 4 · 2016: 6 · 2015: 3 · 2014: 7 · 2013: 3 · 2012: 3
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Vetenskapsrådet
- 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, CYP21, novel mutations, splice donor site mutation, nonsense mutation, allele-specific PCR, genetic diagnosis, congenital adrenal hyperplasia
- MeSH terms
- Adrenal Hyperplasia, Congenital, Alleles, Base Sequence, DNA, Female, Genotype, Humans, Molecular Sequence Data, Pseudogenes, Sodium Chloride, Steroid 21-Hydroxylase, DNA Probes, Polymerase Chain Reaction, Point Mutation
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