Hum Genet. 1992 Jul;89(5):548-52.

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

de Verneuil H, Bourgeois F, de Rooij F, Siersema PD, Wilson JH, Grandchamp B, Nordmann Y.

Source

Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.

Abstract

A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion have been found in a pedigree with two HEP patients (two sisters). The R292G mutation was not detected in 13 unrelated affected patients with F-PCT, so it appears to be uncommon. The possibility that the arginine 292 may participate at the active site of the enzyme is discussed. A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.

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Identification of a new mutation responsible for hepatoerythropoietic porphyria. [Eur J Clin Invest. 1991]
Identification of a new mutation responsible for hepatoerythropoietic porphyria.
Romana M, Grandchamp B, Dubart A, Amselem S, Chabret C, Nordmann Y, Goossens M, Romeo PH. Eur J Clin Invest. 1991 Apr; 21(2):225-9.
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. [Am J Hum Genet. 1996]
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Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taïeb A, Topi G, D'Alessandro L, de Verneuil H. Am J Hum Genet. 1996 Apr; 58(4):712-21.
Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects. [Clin Biochem. 1989]
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Elder GH, Roberts AG, de Salamanca RE. Clin Biochem. 1989 Jun; 22(3):163-8.
Review Uroporphyrinogen decarboxylase. [J Bioenerg Biomembr. 1995]
Review Uroporphyrinogen decarboxylase.
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Review [Porphyria cutanea tarda (PCT)].
Goerz G, Merk H. Z Hautkr. 1985 Jan; 60(1-2):137-46.

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Cited by 6 PubMed Central articles

Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. [Arch Dermatol. 2010]
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Arch Dermatol. 2010 May; 146(5):529-33.
A mouse model of familial porphyria cutanea tarda. [Proc Natl Acad Sci U S A. 2001]
A mouse model of familial porphyria cutanea tarda.
Phillips JD, Jackson LK, Bunting M, Franklin MR, Thomas KR, Levy JE, Andrews NC, Kushner JP. Proc Natl Acad Sci U S A. 2001 Jan 2; 98(1):259-64.
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. [Am J Hum Genet. 1998]
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M, Sorkin L, Rossetti MV, Astrin KH, del C Batlle AM, Parera VE, Aizencang G, Desnick RJ. Am J Hum Genet. 1998 Nov; 63(5):1363-75.

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Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

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