Antley-Bixler syndrome

P450 Oxidoreductase deficiency, Antley-Bixler syndrome POR 7qll.2 124015(207410)... 

P450 ORD, "Combined 17- and 21 -Hydroxylase Deficiency" and the Antley-Bixler Syndrome... 

Fliick CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fu-jieda K, Miller WL (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36 228-230... 

Shackleton C, Marcos J, Arlt W, Hauffa BP (2004b) Prenatal diagnosis of P450 oxidoreductase deficiency (ORD) a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am J Med Genet A 129 105-112... 

Polymorphisms in the human CYP51A1 gene have not been reported nor have debilitating mutants been defined. However, Kelley et a/. reported a patient with Antley-Bixler syndrome and ambiguous genitalia with lanosterol accumulation and an apparent defect in P450 51A1. 

Kelley, R.I., L.E. Kratz, R.L. Glaser, M.L, Netzloff, L.M. Wolf, and E.W. Jabs (2002). Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am. J. Med. Genet. 110, 95-102. 

Huang N, Pandey AV, Agrawal V, Reardon W, La-punzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Fluck CE, Miller WL (2005) Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 76 729-749... 

Marohnic CC, Martasek PS, Masters BS (2006) Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. J Biol Chem 281 35975-35982... 

Nishimura G, Hasegawa T, Ogata T (2005) Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 90 414 26... 

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