Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency
Abstract
Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH), with the nonclassic form (NC) comprising approximately 1% of the Caucasian population. The structure of the CYP21 gene was studied in 13 unrelated NC-CAH patients, three affected siblings, and 55 blood donors using polymerase chain reaction. In addition to the Leu-281 and Leu-30 mutations previously associated with NC-CAH, the finding of a Pro-453 to Ser mutation in exon-10 of CYP21 in the NC-CAH patients is reported. Ser-453 was found in 46.2% of unrelated NC-CAH patients, but only 7.7% and 3.6% of salt-wasting CAH patients and blood donors, respectively. In contrast to the Leu-281 and Leu-30 mutations, Ser-453 has not been previously detected in the CYP21 pseudogene (CYP21P) and, therefore, has not likely arisen by gene conversion.
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Mutations R339H and P453S have been associated with nonclassical CAH.
“In addition, the mutations R339H and P453S have been associated with nonclassical CAH (364,445).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [445]
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- Authors
- Owerbach, D., Sherman, L., Ballard, A. L., & Azziz, R.
- Affiliations
- Baylor College of Medicine (US)
- ORCID
- Azziz, R
- Venue
- Molecular Endocrinology
- Publisher
- The Endocrine Society
- Published
- 1992-08
- Volume
- 6
- Issue
- 8
- Pages
- 1211-1215
- ISSN
- 0888-8809 (ISSN-L)
- 1944-9917
- OpenAlex
- W1977772896
- Cited by
- 91
- References
- 2
- Citations by year
- 2024: 1 · 2022: 1 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 2 · 2014: 3 · 2012: 3
- FWCI
- 2.54
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (DK39965, DK32767, R29DK039965, R01DK032767)
- 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
- non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21, gene conversion, cortisol production, salt-wasting CAH, exon 10
- MeSH terms
- Adrenal Hyperplasia, Congenital, Base Sequence, DNA, Female, Humans, Molecular Sequence Data, Proline, Serine, Point Mutation
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