2. Academic Validation
  3. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

  • Nat Genet. 2004 Mar;36(3):228-30. doi: 10.1038/ng1300.
Christa E Flück 1,  Toshihro Tajima,  Amit V Pandey,  Wiebke Arlt,  Kouji Okuhara,  Charles F Verge,  Ethylin Wang Jabs,  Berenice B Mendonça,  Kenji Fujieda,  Walter L Miller
Affiliations

Affiliation

  • 1 Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA.
PMID: 14758361 DOI: 10.1038/ng1300
Abstract

Deficient activities of multiple steroidogenic enzymes have been reported without and with Antley-Bixler syndrome (ABS), but mutations of corresponding Cytochrome P450 enzymes have not been found. We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice. Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion.

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