title: A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
abstract: We investigated the molecular defect of the ferrochelatase gene in a Japanese patient with erythropoietic protoporphyria (EPP), and identified a novel 16 base pair (574-589) deletion within exon 5. This deletion resulted in a frame-shift mutation and created a premature stop codon at amino acid position 198. The same molecular defect was also identified in his mother and a brother who had symptomatic EPP, but not in his father who was asymptomatic. The subjects with EPP were homozygous for the low expression haplotype, while his father was heterozygous for this haplotype. These results indicate that the combination of a 16 base pair deletion and low expression of the wild-type allelic variant is responsible for EPP in this pedigree.
authors: Faculty of Health and Welfare Science, Okayama Prefectural University, 111 Kuboki, Soja-shi 719-1197, Japan.
authors: Yumiko
authors: Y
authors: Yasui
authors: Shikibu
authors: S
authors: Muranaka
authors: Tsuyoshi
authors: T
authors: Tahara
authors: Ryo
authors: R
authors: Shimizu
authors: Sonoko
authors: S
authors: Watanabe
authors: Yutaka
authors: Y
authors: Horie
authors: Eiji
authors: E
authors: Nanba
authors: Hiroshi
authors: H
authors: Uezato
authors: Atsushi
authors: A
authors: Takamiyagi
authors: Shigeru
authors: S
authors: Taketani
authors: Reiko
authors: R
authors: Akagi
mesh_terms: D000328:Adult; D001483:Base Sequence; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D017121:Porphyria, Hepatoerythropoietic / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D005294:Ferrochelatase