A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria Journal Articles uri icon

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  • BACKGROUND: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. METHODS: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the deletion in his ferrochelatase (FECH) gene. RESULTS: The combination of the deletion and the polymorphisms reduced his FECH activity level to 20% of control. CONCLUSIONS: It is conceivable that a homozygous state for this polymorphic haplotype might be sufficient to produce clinical phenotype of EPP. The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.


  • Li, Chumei
  • Di Pierro, Elena
  • Brancaleoni, Valentina
  • Cappellini, Maria Domenica
  • Steensma, David P

publication date

  • January 1, 2009