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- Title
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
- Authors
Pandey, Amit V.; Arlt, Wiebke; Okuhara, Kouji; Verge, Charles F.; Jabs, Ethylin Wang; Mendonça, Berenice B.; Fujieda, Kenji; Miller, Walter L.; Flück, Christa E.; Tajima, Toshihro
- 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.
- Publication
Nature Genetics, 2004, Vol 36, Issue 3, p228
- ISSN
1061-4036
- Publication type
Academic Journal
- DOI
10.1038/ng1300