A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria

Clin Sci (Lond). 2002 May;102(5):501-6.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Cells, Cultured
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Ferrochelatase / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • Porphyria, Hepatoerythropoietic / genetics*


  • DNA, Complementary
  • Ferrochelatase