Molecular characterization of erythropoietic protoporphyria in South Africa

Abstract

The IVS3-48C allele appears to modulate the phenotypic expression of EPP in the South African EPP cohort as observed in other populations.

Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

“…These findings are in agreement with the conclusion that the inheritance of a lowexpressed allele together with the mutation in the FECH gene are necessary for the clinical expression of this porphyria (4,13,14,16,(25)(26)(27).…”

Fifty years of porphyria at the University of Cape Town

“…17 In EPP, we conducted a national study in affected South African families and identified 18 families carrying 4 mutations, 12 of whom carried the same mutation and were shown by haplotype analysis to have a common ancestor. 18 One family proved particularly interesting in that the clinical features were atypical and we were unable to identify any mutation in the ferrochelatase gene as would be expected. This South African family, and several others in Europe, were shown to have a novel disease now termed X-linked protoporphyria.…”

Erythropoietic Protoporphyria and X-Linked Dominant Protoporphyria

“…5 EPP has so far been reported in Europe, America (US 6 and Argentina 7 ), Asia (Japan 8 and China 9 ), and South Africa, but only among European immigrants. 10 Among black Africans, EPP is extremely rare and, as of 2012, has only been described in one case. 11 Very little is known about the prevalence of XLDPP.…”