Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

NADPH-Cytochrome P450-Reduktase

Das POR-Gen kodiert ein Coenzym der Steroidsynthese im zytoplasmatischen Retikulum. Von diesem Enzym hängt die Wirkung der Enzyme CYP21A2 und CYP17A1 ab. Mutationen verursachen das autosomal rezessive Antley-Bixler-Syndrom mit häufigen Genitalfehlbildungen.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Antley-Bixler-Syndrom 1
POR
Gestörte Steroidsynthese aufgrund eines POR-Mangels
POR

Referenzen:

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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