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

Christa E. Flück, Toshihro Tajima, Amit V. Pandey, Wiebke Arlt, Kouji Okuhara, Charles F. Verge, Ethylin Wang Jabs, Berenice B. Mendonça, Kenji Fujieda, Walter L. Miller

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)228-230
Number of pages3
JournalNature Genetics
Volume36
Issue number3
DOIs
StatePublished - Mar 2004

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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