Article
Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency.
Human genetics - 1 Oct 2005
Bojunga Jörg, Welsch Christoph, Antes Iris, Albrecht Mario, Lengauer Thomas, Zeuzem Stefan
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders and occurs in its non-classical form in up to 6% of hirsute women. We report on a young woman with the clinical diagnosis of non-classical CAH and a novel, heterozygous missense mutation CTG-->GTG in exon 8, codon 317, of the steroid 21-hydroxylase CYP21B and complete loss of pseudogenes....
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- Carrier State
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation
- Sequence Homology, Amino Acid
- Steroid 21-Hydroxylase