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The presence of iron overload in porphyria cutanea tarda (PCT) is well-known, although the overload is not always concentrated in the liver as was originally thought. The origin of this overload is not known with certainty in all cases and is probably explained by various, most often genetic, mechanisms. From this perspective, the implication of protein activity-modifying mutations or polymorphisms in key genes involved in iron metabolism regulation has already been well documented, with deleterious HFE mutations being the most frequently identified changes, occurring in up to one-third of patients (1). Conversely, other genes involved in the regulation of iron metabolism (haemojuvelin, hepcidin, type 2 transferrin receptor) have also been analysed in previous reports with negative results. Ferroportin is another important player in iron metabolism. We report here the search for functionally relevant changes in the ferroportin-encoding SLC40A1 gene in a series of patients with PCT, the first analysis of its kind. Thirty-seven consecutive patients diagnosed with PCT based on the usual clinical and biochemical criteria (25 men and 12 women, age range 34–71 years, including 5 patients with familial-type disease), all originating from southern France, were studied. After receiving written consent, genomic DNA was extract ed from peripheral blood mononuclear cells and subjected to SLC40A1 analysis using stringent amplification con ditions. Then, its eight exons and flanking areas were directly sequenced. The HFE gene was also analysed for functionally significant mutations (homozygous or heterozygous C282Y mutations and the homozygous H63D mutation). (The heterozygous H63D mutation was not studied since its possible effect on iron metabolism remain doubtful and it is frequently encountered in the Mediterranean basin.) Analysis of the HFE and SLC40A1 genes was performed in all 37 patients. In the case of SCL40A1, a number of known polymorphisms with no influence on the primary structure of the encoded protein were identified. A previously unreported complex genomic

Absence of Functional Mutations in the Ferroportin-encoding SLC40A1 Gene in Porphyria Cutanea Tarda: A Series of 37 Cases from Southern France