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Nat Genet. 2004 Mar;36(3):228-30. Epub 2004 Feb 1.

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

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  • 1Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA.


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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