Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Nature genetics, 2004•nature.com
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 …
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 …
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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