Article
Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.
Human molecular genetics - 1 Sept 1994
Sanchez R, Mébarki F, Rhéaume E, Laflamme N, Forest M G, Bey-Omard F, David M, Morel Y, Labrie F, Simard J
Abstract excerpt
Two isoenzymes are responsible for 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-HSD) activity in humans. We analyzed the structure of types I and II 3 beta-HSD genes in a male pseudohermaphrodite suffering from a severe salt-losing form of congenital adrenal hyperplasia. We did not detect any mutation in the type I 3 beta-HSD gene, but we found two different missense mutations in exon IV...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Animals
- DNA Primers
- Disorders of Sex Development
- Female
- Humans
- Infant, Newborn
- Isoenzymes