Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay

Verneuil, Hubert de; Grandchamp, Bernard; Foubert, C; Weil, Dominique; Nguyen, Cong Van; Gross, Marie-Sylvie; Sassa, Shigeru; Nordmann, Y

doi:10.1007/bf00286601

Cited by 36 publications

(15 citation statements)

References 16 publications

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“…The excess zinc protoporphyrin in erythrocytes is probably formed from pathway intermediates that accumulate during hemoglobin synthesis and are later metabolized to protoporphyrin, and then complexed with zinc (Phillips et al, ). HEP is the recessive form of type 2 PCT, an autosomal dominant condition in which heterozygous UROD mutations predispose carriers to clinical manifestations (Verneuil et al, ,b).…”

Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

“…Patients are either homozygous or compound heterozygous for UROD mutations, and at least one allele must express some UROD enzymatic activity, since a null mutation would be lethal in the homozygous state (Elder et al, ; Verneuil et al, ,b). Thus, null mutations are much less common in HEP than in heterozygotes with type 2 PCT (Phillips et al, ).…”

Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

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Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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The porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by the excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. Porphyria is not a single disease but a group of nine disorders: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), delta-aminolevelunic acid dehyratase deficiency porphyria (ADP), porphyria cutanea tarda (PCT), hepatoerythropoetic porphyria (HEP), congenital erythropoetic porphyria (CEP), erythropoetic protoporphyria (EPP), and X-linked protoporphyria (XLP). Each porphyria results from overproduction of heme precursors secondary to partial deficiency or, in XLP, increased activity of one of the enzymes of heme biosynthesis. Taken together, all forms of porphyria afflict fewer than 200,000 people in the United States. Based on European studies, the prevalence of the most common porphyria, PCT, is 1 in 10,000, the most common acute porphyria, AlP, is about 1 in 20,000, and the most common erythropoietic porphyria, EPP, is estimated at 1 in 50,000 to 75,000. CEP is extremely rare with prevalence estimates of 1 in 1,000,000 or less. Only 6 cases of ADP are documented. The current porphyria literature is very exhaustive and a brief overview of porphyria diseases is essential in order for the reader to better appreciate the relevance of this area of research prior to undertaking biochemical diagnostics procedures. This unit summarizes the current knowledge on the classification, clinical features, etiology, pathogenesis, and genetics of these porphyria diseases.

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Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

Section: Non‐acute Hepatic Porphyriasmentioning

confidence: 99%

Porphyria Diagnostics—Part 1: A Brief Overview of the Porphyrias

2015

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“…The genetic locus encoding for URO-D is mapped on human chromosome 1 (Verneuil et al 1984b) and the cloning and sequencing of the gene (Romana et al 1987) allowed to find out genetic defects associated to familial PCT (f-PCT) and to HEP. So far, 39 different mutations in the UROD gene have been identified and the molecular analysis has confirmed that HEP is the homozygous form of f-PCT (Garey et al 1989, Garey et al 1990, Romana et al 1991, Verneuil et al 1992, Roberts et al 1995, Moran-Jimenez et al 1996, Mendez et al 1998, McManus et al 1999, Christiansen et al 1999, Mendez et al 2000.…”

Section: Introductionmentioning

confidence: 99%

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)

et al. 2001

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In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G>C) is a splicing defect causing the exon 9 deletion and one (1107 G>A) is located in the 3' untranslated region of UROD gene. All the amino acid substitutions fall in conserved regions in several organisms suggesting an important role in catalysis or in the protein structure stabilization. Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified.

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“…In these cases with hereditary autosomic dom inant transmission, a decrease of about 50% of the activity o f the erythrocytic uro decarboxylase is observed in erythrocytes, hepatocytes, lymphocytes and fibroblasts [3], Morphologically, the characteristics of SPCT and FPCT are almost identical and can be controlled with the same therapy.…”

Section: Discussionmentioning

confidence: 76%