Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.

2.50
Hdl Handle:
http://hdl.handle.net/10541/90045
Title:
Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.
Authors:
McCartin, S; Russell, A J; Fisher, R A; Wallace, A M; Arnhold, I J; Mason, J I; Varley, Jennifer; Mendonca, B B; Sutcliffe, R G
Abstract:
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.
Affiliation:
Division of Molecular Genetics, Institute of Biomedical and Life Sciences, Glasgow University, Glasgow G12 8QQ, UK.
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 Endocrinology
Issue Date:
Feb-2000
URI:
http://hdl.handle.net/10541/90045
DOI:
10.1677/jme.0.0240075
PubMed ID:
10656999
Type:
Article
Language:
en
ISSN:
0952-5041
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorMcCartin, Sen
dc.contributor.authorRussell, A Jen
dc.contributor.authorFisher, R Aen
dc.contributor.authorWallace, A Men
dc.contributor.authorArnhold, I Jen
dc.contributor.authorMason, J Ien
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorMendonca, B Ben
dc.contributor.authorSutcliffe, R Gen
dc.date.accessioned2010-01-19T17:27:55Z-
dc.date.available2010-01-19T17:27:55Z-
dc.date.issued2000-02-
dc.identifier.citationPhenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II. 2000, 24 (1):75-82 J. Mol. Endocrinol.en
dc.identifier.issn0952-5041-
dc.identifier.pmid10656999-
dc.identifier.doi10.1677/jme.0.0240075-
dc.identifier.urihttp://hdl.handle.net/10541/90045-
dc.description.abstractMutations 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.en
dc.language.isoenen
dc.subject.mesh3-Hydroxysteroid Dehydrogenases-
dc.subject.meshBase Sequence-
dc.subject.meshCodon-
dc.subject.meshDNA Primers-
dc.subject.meshFemale-
dc.subject.meshHaplotypes-
dc.subject.meshHumans-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshPedigree-
dc.subject.meshPhenotype-
dc.subject.meshPseudogenes-
dc.subject.meshRecombination, Genetic-
dc.titlePhenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.en
dc.typeArticleen
dc.contributor.departmentDivision of Molecular Genetics, Institute of Biomedical and Life Sciences, Glasgow University, Glasgow G12 8QQ, UK.en
dc.identifier.journalJournal of Molecular Endocrinologyen

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