Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms
| Autor: | Samir M'Rabet, Najoua Kahloul, Hassen Sboui, Sihem Trimech, N. Zouari, Felix G. Riepe, Mohamed Tahar Sfar, Fathi Amri, Saloua Makni, Abdelkarim Ayedi, Ali Saad, Ilhem Charfeddine, Eric Clauser, Paul-Martin Holterhus, Slaheddine Chouchane, Moez Gribaa, Hechmi Ben Hamouda |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Tunisia endocrine system diseases Adolescent Pseudogene Population Molecular Sequence Data Single-nucleotide polymorphism Steroid biosynthesis Biology urologic and male genital diseases Polymorphism Single Nucleotide Genetics medicine Humans Point Mutation Congenital adrenal hyperplasia Allele education Child Gene Alleles Genetic Association Studies education.field_of_study Adrenal Hyperplasia Congenital Base Sequence Point mutation nutritional and metabolic diseases Infant General Medicine Middle Aged medicine.disease Molecular biology female genital diseases and pregnancy complications Child Preschool Female Steroid 21-Hydroxylase Pseudogenes |
| Zdroj: | Gene. 507(1) |
| ISSN: | 1879-0038 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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