title: A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
abstract: The molecular basis of the uroporphyrinogen III synthase (UROIIIS) deficiency was investigated in two members of a Japanese family. This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Gnther's disease. The first patient was homoallelic for a novel missense mutation: a T to C transition of nucleotide 634 that predicted a serine to proline substitution at residue 212 (S212P). The second patient appeared heteroallelic, carrying the same missense mutation and a nonsense mutation: a C to T change at nucleotide 745, resulting in a premature stop at codon 249, instead of a glutamine (Q249X). The corresponding mutated proteins were expressed in Escherichia coli and no residual activity was observed. A family study was also performed to determine the carrier status.
authors.affiliation: Department of Preventive Medicine, Atomic Disease Institute, Nagasaki, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Tanigawa
authors.forename: M
authors.initials: M
authors.lastname: Bensidhoum
authors.forename: N
authors.initials: N
authors.lastname: Takamura
authors.forename: H
authors.initials: H
authors.lastname: Namba
authors.forename: S
authors.initials: S
authors.lastname: Yamashita
authors.forename: H
authors.initials: H
authors.lastname: de Verneuil
authors.forename: C
authors.initials: C
authors.lastname: Ged
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics*; D011392:Proline; D012694:Serine; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D012694:Serine; D011392:Proline; D014576:Uroporphyrinogen III Synthetase