Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.
Authors
McCartin, SRussell, A J
Fisher, R A
Wallace, A M
Arnhold, I J
Mason, J I
Varley, Jennifer
Mendonca, B B
Sutcliffe, R G
Affiliation
Division of Molecular Genetics, Institute of Biomedical and Life Sciences, Glasgow University, Glasgow G12 8QQ, UK.Issue Date
2000-02
Metadata
Show full item recordAbstract
Mutations in HSD3B2, the gene for 3beta-hydroxysteroid dehydrogenase type II (3beta-HSD II) have been detected and activities analysed through the in vitro expression of mutant cDNAs. Two full sibs with male pseudohermaphroditism were found to be double heterozygotes: N100S/266DeltaA. This genotype leads to the most profound loss of 3beta-HSD II enzyme activity (1.3% of normal) described to date in cases without severe salt-loss. One sib (N100S/266DeltaA) is the first reported male case of type II deficiency affected with premature adrenarche. Three apparently independent kindreds had propositi affected with the HSD3B2 mutation A82T/A82T, which is associated with a non salt-losing phenotype with variable expressivity in females. These three families had the same extended HSD3B haplotype and are likely to have inherited the same ancestral mutation. The significance of this finding is discussed in the light of the presence of A82T mutation at a homologous position in pseudogene varphi5 that is present in the HSD3B cluster.Citation
Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II. 2000, 24 (1):75-82 J. Mol. Endocrinol.Journal
Journal of Molecular EndocrinologyDOI
10.1677/jme.0.0240075PubMed ID
10656999Type
ArticleLanguage
enISSN
0952-5041ae974a485f413a2113503eed53cd6c53
10.1677/jme.0.0240075