Abstract
Background: Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disease that is caused by partial ferrochelatase (FECH) deficiency because of a genetic mutation in the FECH gene.
Objectives: The aim of this study was to investigate the genetic mechanism of EPP in a Chinese family.
Methods: Clinical physical examination, laboratory testing, and medical history tracking were performed for phenotyping. The FECH gene was sequenced for genotyping.
Results: The proband presented EPP with severe liver dysfunction. A novel nonsense mutation of c.910 C>T in the FECH gene, resulting in p.Arg304Ter, was identified in the proband as well as her symptomatic mother, aunt, and asymptomatic male cousin. The proband and her living family members, except the asymptomatic male cousin, carried the alleles IVS 3-48C and IVS 1-23T on the FECH gene. The mutation of c.910 C>T in the FECH gene presented its heterozygous autosomal dominant inherent clinical manifestations, only in the presence of the heterozygous alleles IVS 3-48C and IVS 1-23T. The frequencies of the alleles IVS 3-48C and IVS 1-23T were 30.8% and 27.9% in a northeast Chinese Han population, respectively.
Conclusions: A new nonsense mutation of c.910 C>T was identified in the FECH gene, which expressed EPP with severe liver dysfunction when it was co-inherited with the heterozygous alleles IVS 3-48C and IVS 1-23T, in a Chinese family.