Background: Erythropoietic protoporphyria (EPP) is characterized by photosensitive skin lesions and various liver injuries. EPP is an inherited disease closely related to single nucleotide polymorphisms (SNPs) in the ferrochelatase gene ( FECH ). We aim to analyze FECH mutations in a Chinese pedigree in order to help clarify the disease’s pattern of inheritance.
Results: We genotyped the FECH gene in a male proband with EPP with liver injury and in his family members in Fujian, China. Since the FECH allele (IVS3-48C) has been associated with up to 98% of patients with EPP, we investigated this mutation in 200 unrelated controls in Fujian. The deletion shift mutation c.757_761delAGAAG was detected in the proband and his brother, father, two uncles, and grandmother. The proband, his brother and two uncles, all of whom showed photosensitive lesions, carried both the c.757_761delAGAAG allele and the IVS3-48C allele. We also detected the mutant allele IVS8-61_-62delCT in this pedigree. In the 200 unrelated subjects, 31.47% carried the IVS3-48C allele. In a pedigree of EPP, we detected the deletion shift mutation c.757_761delAGAAG, which is the first report of such a mutation in China .
Conclusions: Based on our data, the mode of inheritance requires a haplotype formed by two loci, IVS3-48T>Cand c.757_761delAGAAG.