ArticleGenetic testing and molecular biomarkers2012
Mutation analysis of the CYP21A2 gene in the Iranian population.
Article in Genetic testing and molecular biomarkers, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.Journal of endocrinological investigation · 2022Article
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature.Journal of pediatric genetics · 2021Article
- Article
- An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant inInternational journal of endocrinology · 2021Article
- p.Gln318X and p.Val281Leu as the Major Variants ofInternational journal of endocrinology · 2020Article
- Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.Advanced biomedical research · 2016Article
- Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia.Advanced biomedical research · 2015Review
- A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.Saudi medical journal · 2015Article
- 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
- 21-hydroxylase deficiency: newborn screening in iran?Iranian journal of pediatrics · 2012Article
- Article
- Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families.Indian journal of endocrinology and metabolismArticle
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDefects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia. Forty four affected families were investigated to identify the mutation spectrum of the CYP21A2 gene.
methodsFamilies were subjected to clinical, biochemical, and molecular analyses. Allele-specific polymerase chain reaction amplification was used for eight common mutations followed by dosage analysis to exclude CYP21A2 deletions.
resultsThe most frequent mutations detected were gene deletions and chimera (31.8%). Other mutation frequencies were as follows: Q318X, 15.9%; I2G, 14.8%; I172N, 5.8%; gene duplication, 5.7%; R356W, 8%; and E6 cluster mutations, 2.3%. Direct sequencing of the CYP21A2 gene revealed R316X, P453S, c.484insT, and a change at the start codon. Different modules carried by patients were classified into five different haplotypes. The genotype phenotype correlation (positive predictive value) for group null, A, B, and C were 92.3%, 85.7%, 100%, and 0, respectively.
conclusionsMethods used will be helpful for carrier detection and antenatal diagnosis, especially with inclusion of the multiplex ligation probe dependent amplification technique, which is easier for routine tests in comparison with other methods. Mutation frequencies indicate that Iranians are possible descendants of Asians and Europeans.
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