Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

Zhang biao Long, Yong wei Wang, Chen Yang, Gang Liu, Ya li Du, Guang jun Nie, Yan zhong Chang, Bing Han

Research output: Contribution to journalReview article

1 Scopus citations

Abstract

Erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cases have been described in Asia. In this study, we describe the clinical features of two Chinese patients with EPP, with diagnosis confirmed by the increase of free protoporphyrin in erythrocytes, detection of plasma fluorescence peak at 630–634 nm, and analysis of FECH gene mutations. Using gene scanning, we identified a small deletion in the FECH gene (c.973 delA) in one proband (patient A) and a pathogenic FECH mutation (c.1232 G>T) in the other (patient B) and also observed some nucleotide variations (c.798 C>G, c.921 A>G, IVS1−23 C>T, IVS3+23 A>G, IVS9+35 C>T, and IVS3−48 T>C) in these patients. The family pedigree of patient A was then established by characterization of the genotype of the patient’s relatives. We also analyzed the potential perniciousness of the missense mutation with bioinformatic software, Polyphen and Sift. In summary, Chinese EPP patients have similar manifestations to those of Caucasians, and identification of the Chinese FECH gene mutations expands the FECH genotypic spectrum and may contribute to genetic counseling.

Original languageEnglish (US)
Pages (from-to)813-820
Number of pages8
JournalJournal of Zhejiang University: Science B
Volume17
Issue number10
DOIs
StatePublished - Oct 1 2016

Keywords

  • Chinese patients
  • Clinical manifestation
  • Erythropoietic protoporphyria
  • Ferrochelatase
  • Missense mutations

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • veterinary(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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