Article
CYP21A2 intronic variants causing 21-hydroxylase deficiency.
Metabolism: clinical and experimental - 1 Jun 2017
Concolino Paola, Rizza Roberta, Costella Alessandra, Carrozza Cinzia, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of...
Topics
- Adrenal Hyperplasia, Congenital
- Genetic Variation
- Humans
- Introns
- Pathology, Molecular
- Steroid 21-Hydroxylase