Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome |
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Authors: | Flück Christa E Tajima Toshihro Pandey Amit V Arlt Wiebke Okuhara Kouji Verge Charles F Jabs Ethylin Wang Mendonça Berenice B Fujieda Kenji Miller Walter L |
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Affiliation: | Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA. |
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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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