Identification of Two New
Mutations in Congenital
Erythropoietic Porphyria

Bensidhoum, Morad; Ged, Cécile; Hombrados, Isabelle; Moreau‐Gaudry, François; Hift, Richard; Meissner, Peter N.; Sturrock, Edward D.; Verneuil, Hubert de

doi:10.1159/000472283

Cited by 18 publications

(11 citation statements)

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“…The affected sibling was homozygous for the C73R mutation, the most common and severe mutation found in this genetic disease (Xu et al, 1995;Bensidhoum et al, 1995). Prenatal diagnosis of CEP has been 1 2 3 4 -140 -100…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis had been made in a previous sibling: the first baby died 1 month after birth from the sequelae of severe haemolytic anaemia with hepatic failure (Verneuil et al, 1995). For the second pregnancy, amniocentesis was done at 16 weeks' gestation.…”

Section: Pregnancies and Patientsmentioning

confidence: 99%

“…Analysis of the DNA from the affected sibling demonstrated that she was homozygous for the C73R mutation (Verneuil et al, 1995). This mutation is easily detected because it creates a new Mae I1 site.…”

Section: Dna Analysismentioning

confidence: 99%

“…A characteristic abnormality of the disease is an 80-98 per cent decrease in the activity of uroporphyrinogen I11 synthase (UROIIIS), the fourth enzyme of the heme biosynthetic pathway [hydroxymethylbilane hydrolase (cyclizing), EC 4.2.1.751 (Romeo and Levin, 1969;Deybach et al, 1981). The determination of the nucleotide sequence of the cDNA encoding UROIIIS (Tsai et al, 1988) has made it possible to study the molecular lesions responsible for the disease and 17 different mutations have been described (Deybach et al, 1990;Boulechfar et al, 1992;Warner et al, 1992;Xu et al, 1995;Bensidhoum et al, 1995). The advent of molecular techniques for the characterization of these specific gene defects has made the prenatal diagnosis of this severe porphyria possible by analysis of the mutation(s).…”

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis in Congenital Erythropoietic Porphyria by Metabolic Measurement and Dna Mutation Analysis

et al. 1996

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Section: Discussionmentioning

confidence: 99%

Section: Pregnancies and Patientsmentioning

confidence: 99%

Section: Dna Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prenatal Diagnosis in Congenital Erythropoietic Porphyria by Metabolic Measurement and Dna Mutation Analysis

et al. 1996

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“…Since the cDNA of the UROIIIS has been cloned and sequenced by Tsai and co-workers [1988], attention has focused on the molecular defects responsible for CEP. To date, 17 different mutations of the UROIIIS gene (UROS) have been described [Deybach et al, 1990;Boulechfar et al, 1992;Warner et al, 1992;Bensidhoum et al, 1995;Xu et al, 1995;Tanigawa et al, 1996] and a single mutation, C73R, is present in 50% of the disease alleles in the Europeans and is associated with a severe phenotype. In Japan, we have recently reviewed 33 cases of CEP and found that only 4 cases are analyzed at the molecular level [Xu et al, 1995;Tanigawa et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family

et al. 1997

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The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in a member of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Günther's disease. The patient was homozygous for a novel missense mutation: a G to T transition of nucleotide 7 that predicted a valine to phenylalanine substitution at residue 3 (V3F). The parents were heterozygous for the same mutation. The loss of UROIIIS activity was verified by an in vitro assay system. The corresponding mutated protein was expressed in Escherichia coli and no residual activity was observed. Further studies are needed to determine whether the mutations of the UROIIIS gene (UROS) have a specific profile in Japan compared to European or American countries.

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Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells

Kauppinen

Glass

Aizencang

et al. 1998

Molecular Genetics and Metabolism

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Identification of Two New Mutations in Congenital Erythropoietic Porphyria

Cited by 18 publications

References 10 publications

Prenatal Diagnosis in Congenital Erythropoietic Porphyria by Metabolic Measurement and Dna Mutation Analysis

Prenatal Diagnosis in Congenital Erythropoietic Porphyria by Metabolic Measurement and Dna Mutation Analysis

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family

Congenital Erythropoietic Porphyria: Prolonged High-Level Expression and Correction of the Heme Biosynthetic Defect by Retroviral-Mediated Gene Transfer into Porphyric and Erythroid Cells

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