Cited by 130Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Nonsense mutation causing steroid 21-hydroxylase deficiency

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Globerman, H, Amor, M, Parker, K L, New, M I, White, P C·1988·Journal of Clinical Investigation

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Abstract

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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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
Publisher: American Society for Clinical Investigation
Published: 1988-07-01
Volume: 82
Issue: 1
Pages: 139-144
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci113562
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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Nonsense mutation causing steroid 21-hydroxylase deficiency

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