Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

NADPH-cytochrome P450 reductase

POR gene encodes a co-enzyme od steroidogenesis. It helps the endoplasmatic enzymes CYP21A2 and CYP17A1. Mutations cause autosomal recessive Antley-Bixler syndrome with genital anomalies.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Antley-Bixler syndrome 1
POR
Disordered steroidogenesis due to POR deficiency
POR

References:

1.

Shephard EA et. al. (1989) Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2.

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2.

Peterson RE et. al. (1985) Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.

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3.

None (1986) Congenital adrenal hyperplasia.

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4.

Biason-Lauber A et. al. (1997) A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.

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5.

Reardon W et. al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

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6.

Shen AL et. al. (2002) Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase.

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7.

Kelley RI et. al. (2002) Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

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8.

Otto DM et. al. (2003) Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis.

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9.

Hurley ME et. al. (2004) Antley-Bixler syndrome with radioulnar synostosis.

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10.

Flück CE et. al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

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11.

Arlt W et. al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

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12.

Fukami M et. al. (2005) Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

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13.

Huang N et. al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

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14.

Adachi M et. al. (2006) POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.

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15.

Hershkovitz E et. al. (2008) Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

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Update: Sept. 26, 2018