Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia

John C. Achermann, Joshua J. Meeks, Baxter Jeffs, Urmi Das, Peter E. Clayton, Charles G D Brook, J. Larry Jameson

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Mutations in the gene encoding steroidogenic acute regulatory protein (StAR) cause lipoid congenital adrenal hyperplasia. We report a novel homozygous splice site mutation (IVS1 + 2T → G) in STAR in two sisters (46XY, 46XX) who presented with primary adrenal insufficiency at birth and a novel homozygous R182H missense mutation in the putative lipid transfer domain of StAR in a phenotypic female (46XY) with adrenal failure and a parotid tumor. These cases highlight the importance of StAR-dependent steroidogenesis during fetal development and early infancy and of the critical functional role of R182 in cholesterol transport. © 2001 Academic Press.
    Original languageEnglish
    Pages (from-to)354-357
    Number of pages3
    JournalMolecular genetics and metabolism
    Volume73
    Issue number4
    DOIs
    Publication statusPublished - 2001

    Keywords

    • Adrenal
    • Lipid transfer domain
    • Lipoid congenital adrenal hyperplasia
    • Parotid tumor
    • StAR
    • Testis

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