title: A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.
abstract: 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.
authors.affiliation: Clinical Genetics Program, Department of Pediatrics, McMaster University, Ontario, Canada. lichum@mcmaster.ca
authors.forename: Chumei
authors.initials: C
authors.lastname: Li
authors.forename: Elena
authors.initials: E
authors.lastname: Di Pierro
authors.forename: Valentina
authors.initials: V
authors.lastname: Brancaleoni
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
authors.forename: David P
authors.initials: DP
authors.lastname: Steensma
mesh_terms: D000328:Adult; D005294:Ferrochelatase / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D046351:Protoporphyria, Erythropoietic / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D005294:Ferrochelatase