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

Xiao Fei Kong, Jing Ye, De Yong Gao, Qi Ming Gong, Dong Hua Zhang, Zhi Meng Lu, Yi Ming Lu, Xin Xin Zhang

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)375-379
Number of pages5
JournalJournal of Hepatology
Issue number2
StatePublished - Feb 2008
Externally publishedYes


  • Erythropoietic protoporphyria
  • Ferrochelatase mutation
  • IVS3-48T/C
  • Liver complication

ASJC Scopus subject areas

  • Hepatology


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