Article
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
Gene - 1 Oct 2012
Ben Charfeddine Ilhem, Riepe Felix G, Clauser Eric, Ayedi Abdelkarim, Makni Saloua, Sfar Mohamed Tahar, Sboui Hassen, Kahloul Najoua, Ben Hamouda Hechmi, Chouchane Slaheddine, Trimech Sihem, Zouari Noura, M'Rabet Samir, Amri Fathi, Saad Ali, Holterhus Paul-Martin, Gribaa Moez
Abstract excerpt
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...
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