Article
A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
Clinical chemistry and laboratory medicine - 1 Jan 2009
Concolino Paola, Minucci Angelo, Mello Enrica, Zuppi Cecilia, Capoluongo Ettore
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused primarily by defects in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene is located in the HLA class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous with CYP21A2 in its coding sequence. Most mutations found in the CYP21A2 gene are normally present in the...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 6
- Codon, Nonsense
- Humans
- Infant, Newborn
- Pedigree
- Steroid 21-Hydroxylase