ArticleProceedings of the National Academy of Sciences of the United States of America1988
Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 247 citations in OpenAlex.
- Stress-associated transient enlargement of pre-existing adrenal hyperplasia in 21-hydroxylase deficiency: a case report.Frontiers in endocrinology · 2026Article
- Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.The Journal of clinical endocrinology and metabolism · 2025Review
- Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.Frontiers in endocrinology · 2025Review
- History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.Endocrine reviews · 2023Article
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.Pharmacogenomics and personalized medicine · 2021Article
- Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.Molecular genetics & genomic medicine · 2019Article
- The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family.European journal of medical research · 2019Article
- An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.Reviews in endocrine & metabolic disorders · 2018Review
- Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia.Frontiers in endocrinology · 2018Article
- Functional and Structural Consequences of NineInternational journal of endocrinology · 2016Article
- Biochemical and genetic diagnosis of 21-hydroxylase deficiency.Endocrine · 2015Review
- Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency.Journal of medical biochemistry · 2015Article
- Is homologous recombination really an error-free process?Frontiers in genetics · 2014Review
- Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia.Endocrine connections · 2014Article
- Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.Annals of pediatric endocrinology & metabolism · 2013Article
- Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia.Indian journal of endocrinology and metabolism · 2012Article
- Between candidate genes and whole genomes: time for alternative approaches in blood pressure genetics.Current hypertension reports · 2012Review
- A large view of CYP21 locus among Sicilians and other populations: identification of a novel CYP21A2 variant in Sicily.Journal of endocrinological investigation · 2011Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a specific cytochrome P450, P450c21 (P450XXIA). The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) are located in the HLA complex on chromosome 6p. Many mutant alleles are associated with deletions of CYP21B; we report the cloning and characterization of a nondeleted mutant CYP21B gene. This mutant gene is expressed on transfection into mouse Y1 adrenal cells, producing mRNA levels similar to those seen after transfection of the normal CYP21B gene. In codon 172 of the mutant gene, the normal codon ATC, encoding isoleucine, has been changed to AAC, encoding asparagine. This mutation is normally present in the CYP21A pseudogene, so that it may have been transferred to the mutant CYP21B gene by gene conversion. Hybridization of oligonucleotide probes corresponding to this and two other mutations normally present in CYP21A demonstrated that 4 out of 20 patients carried the codon 172 mutation; in one of these patients, the mutation was present as part of a larger gene conversion involving at least exons 3-6. Gene conversion may be a frequent cause of 21-hydroxylase deficiency alleles due to the presence of six chi-like sequences (GCTGGGG) in the CYP21 genes and the close proximity of the CYP21A pseudogene, which has several potentially deleterious mutations.
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