Mutation analysis of ferrochelatase gene in a pedigree with erythropoietic protoporphyria.

：Objective To characterize the inheritance of erythropoieticprotoporphyria (EPP) by detecting the mutations of ferroehelatase (FECH) gene in a Chinesefamily with EPP. Methods Peripheral blood samples were obtained from 4 patients and 3unaffected individuals in a family with EPP, as well as from 50 unrelated healthy humancontrols. PCR was performed to amplify all the 11 exons and flanking sequence of FECH genefollowed by direct sequencing. Results A splicing mutation, i.e., IVS3+1G→A, was identified in the proband as well as his symptomatic sister,cousin, grandfather and asymptomatic mother, but not in his asymptomatic father,grandmother, or unrelated healthy controls. The genotypes IVS1-23 T/C and IVS3-48 C/T werenoted in the proband, his father, sister, cousin and grandfather, but absent in his motheror grandmother who carried IVS1-23 C/C and IVS3-48 T/T genotypes. Conclusions A novelsplicing mutation is found in the FECH gene in a Chinese EPP family, which, together withtwo lowly expressed alleles IVS1-23T and IVS3-48C, is likely to be responsible for theclinical phenotype of EPP in this family. Key words: Protoporphyria; erythropoietic; Ferrochelatase; Mutation