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Nonsense mutation causing steroid 21-hydroxylase deficiency
Open accessAbstract
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to result in a completely nonfunctional enzyme due to premature termination of translation. In addition, when the cloned mutant gene was transfected into mouse Y1 adrenal cells, the resulting mRNA levels were decreased compared with transfected normal CYP21B genes. This mutation was carried by 3 of 20 unrelated patients with 21-hydroxylase deficiency alleles as determined by hybridization with a specific oligonucleotide probe. This mutation is also seen in the normal CYP21A pseudogene, so that its presence in the abnormal CYP21B gene may be the result of a gene conversion event.
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“Occasionally a breakpoint occurs in the TNX genes, leading to complete deletion of C4B and CYP21A2, and a TNXB/TNXA chimeric gene (149,150,189).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [150]
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
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Nonclassical 21-Hydroxylase Deficiency
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Metadata
- Authors
- Globerman, H., Amor, M., Parker, K. L., New, M. I., & White, P. C.
- Affiliations
- Cornell University (US)
- Howard Hughes Medical Institute (US)
- ORCID
- White, P C
- Venue
- Journal of Clinical Investigation
- Published
- 1988-07-01
- Volume
- 82
- Issue
- 1
- Pages
- 139-144
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC303487
- OpenAlex
- W2038517627
- Cited by
- 130
- References
- 44
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 3 · 2022: 4 · 2021: 2 · 2020: 3 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 5
- FWCI
- 3.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Charles H. Revson Foundation
- American Philosophical Society
- National Cancer Institute (CA 22507)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37867)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
- 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, nonsense mutation, congenital adrenal hyperplasia, salt-wasting form, premature stop codon, gene conversion
- MeSH terms
- Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Codon, Genes, Humans, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Oligonucleotides, Steroid Hydroxylases, Steroid 21-Hydroxylase, Transfection
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