Article
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.
The Journal of steroid biochemistry and molecular biology - 1 Feb 2011
Gaffney Dairena, Howie A Forbes, Bakkush Anwar M El, Hoffmann Thorsten M, Mason J Ian, Wallace A Michael, Donaldson Malcolm D C
Abstract excerpt
The study subject was a 13 day-old boy admitted to hospital, with weight loss since birth. He presented with the vomiting and hypotension that are classical features of congenital adrenal hyperplasia (CAH). The most common type of CAH is an autosomal recessive disorder caused by mutations in the 21-hydroxylase (CYP21A2) gene. To examine the CYP21A2 gene, gene-specific PCR was carried out, followed by sequencing....
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Amino Acid Sequence
- Base Sequence
- Genotype
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation