Case Reports
doi: 10.1038/ng1300.
Epub 2004 Feb 1.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
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- PMID: 14758361
- DOI: 10.1038/ng1300
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Case Reports
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Nat Genet.
2004 Mar.
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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