ArticleJournal of endocrinological investigation2015
High frequency of splice site mutation in 21-hydroxylase deficiency children.
Article in Journal of endocrinological investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.Frontiers in pediatrics · 2025Article
- Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche.Advanced biomedical research · 2016Article
- Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.Journal of endocrinological investigation · 2015Article
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Authors and funding
6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeSteroid 21-hydroxylase deficiency (21-OHD) is the common type of congenital adrenal hyperplasia (CAH) caused by defects in the CYP21A2 gene, as an autosomal recessive disease, genetic analysis has a prominent role in its diagnosis. Our objectives were to determine the prevalence of common mutations in a group of Egyptian patients with 21-OHD and their families using rapid methods, and also to detect the rate of deletion, duplication and conversions in CYP21A2 gene.
methodsRapid detection methods were used: allele-specific PCR for c.293-13A>G (g.659A>G), c.518T>A (p.I172N) variants and c.332_339del (8-bp deletion in exon 3), and real-time, quantitative PCR assay was used to detect deletion in the CYP21A2 gene. 29 Egyptian patients, 38 family members, and 20 healthy controls were all included in the study.
resultsThe frequency of c.293-13A>G splice mutation was reported in 96.6 % cases, G allele had 2.5-folds higher risk to develop CAH than other alleles. The c.518T>A mutation was reported in 69 % cases, children carrying the mutant allele were 2.1 times more risk. The most frequent combined mutations detected were c.293-13A/C>G/c.518T>A in 58.6 % cases.
conclusionThe genetic analysis of the splice site mutation c.293-13A>G and c.518T>A variant can be used as good biomarkers for early detection of cases and carriers in 21-OHD CAH Egyptian children, since the methods used have rapid turnaround time.
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