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Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms |
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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 |
| Institution: | Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street Ibn El Jazzar, 4000 Sousse, Tunisia. |
| 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. |
| Keywords: | CAH congenital adrenal hyperplasia CYP21A2 21 hydroxylase enzyme NC non classical form MLPA multiplex ligation-dependent probe amplification SNP single nucleotide polymorphism SV simple virilizing form SW salt-wasting form 17OHP 17-hydroxyprogesterone 21-OHD steroid 21-hydroxylase deficiency |
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