A new ferrochelatase mutation combined with low expression alleles in a Japanese patient with erythropoietic protoporphyria.
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.
Yasui
Yumiko
Y
Faculty of Health and Welfare Science, Okayama Prefectural University, 111 Kuboki, Soja-shi 719-1197, Japan.
Muranaka
Shikibu
S
Tahara
Tsuyoshi
T
Shimizu
Ryo
R
Watanabe
Sonoko
S
Horie
Yutaka
Y
Nanba
Eiji
E
Uezato
Hiroshi
H
Takamiyagi
Atsushi
A
Taketani
Shigeru
S
Akagi
Reiko
R
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*
D018076:DNA, Complementary; D005294:Ferrochelatase