title: Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis.
abstract: Identification of uroporphyrinogen III synthase (UROIIIS) gene mutations in patients with congenital erythropoietic porphyria (CEP) allows fast and reliable carrier detection and prenatal diagnosis. We describe here the first case of prenatal diagnosis by concomitant measurement of uroporphyrin I in amniotic fluid and direct detection of the gene mutation. A French couple, whose first child was diagnosed with CEP, requested prenatal diagnosis at 16 weeks of gestation. Uroporphyrin I was dramatically increased in amniotic fluid and the fetus was homozygous for the C73R mutation, the most common mutation in this disease. The pregnancy was then terminated.
authors.affiliation: Département de Biochimie Médicale, Université de Bordeaux 2, France.
authors.forename: C
authors.initials: C
authors.lastname: Ged
authors.forename: F
authors.initials: F
authors.lastname: Moreau-Gaudry
authors.forename: L
authors.initials: L
authors.lastname: Taine
authors.forename: I
authors.initials: I
authors.lastname: Hombrados
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: P
authors.initials: P
authors.lastname: Colombies
authors.forename: H
authors.initials: H
authors.lastname: De Verneuil
mesh_terms: D000653:Amniotic Fluid / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D009154:Mutation; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics; D014578:Uroporphyrins / Q000378:metabolism
chemical_list: D014578:Uroporphyrins; C034103:uroporphyrin I; D014576:Uroporphyrinogen III Synthetase