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

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    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
    Affiliation
    Division of Molecular Genetics, Institute of Biomedical and Life Sciences, Glasgow University, Glasgow G12 8QQ, UK.
    Issue Date
    2000-02
    
    Metadata
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    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.
    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
    URI
    http://hdl.handle.net/10541/90045
    DOI
    10.1677/jme.0.0240075
    PubMed ID
    10656999
    Type
    Article
    Language
    en
    ISSN
    0952-5041
    ae974a485f413a2113503eed53cd6c53
    10.1677/jme.0.0240075
    Scopus Count
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