Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria

Background/Aims Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by a partial decrease in ferrochelatase (FECH) activity leading to excessive accumulation of protoporphyrin. While a majority of EPP patients only exhibit photosensitivity, a small percentage of patients also develop liver complications and need liver transplantation. Methods In this study, we have sequenced the ferrochelatase gene of a Chinese EPP patient who suffered from EPP-related liver complications. Results A nonsense mutation in exon 4, 343C>T, introducing a premature stop codon at position arginine 115, was identified in the proband as well as her symptomatic mother and brother, but was absent in her father. All the family members with overt photosensitivity also carried the low-expressed allele IVS3-48c, whose prevalence in the Chinese Han population was determined to be 41.35% and which was also functional in producing an aberrant 63 bp insertion. Conclusion We describe the first FECH mutation identified in the Chinese Han population and report a high frequency of the hypomorphic IVS3-48c allele in China.