Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
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| Abstract |
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency. CYP21A2 mutations were identified in 87% of the alleles. The most common point mutation in our population was the pseudogene specific variant p.Q318X (26%). Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population. The overall concordance between genotype and phenotype was 98%. With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling.
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| Authors | Ilhem Ben Charfeddine, Felix G Riepe, Eric Clauser, Abdelkarim Ayedi, Saloua Makni, Mohamed Tahar Sfar, Hassen Sboui, Najoua Kahloul, Hechmi Ben Hamouda, Slaheddine Chouchane, Sihem Trimech, Noura Zouari, Samir M'Rabet, Fathi Amri, Ali Saad, Paul-Martin Holterhus, Moez Gribaa |
| Journal | Gene (Gene) Vol. 507 Issue 1 Pg. 20-6 (Oct 01 2012) ISSN: 1879-0038 [Electronic] Netherlands |
| PMID | 22841790 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Copyright © 2012 Elsevier B.V. All rights reserved. |
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