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

Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population

“…In this work, we have studied 11 novel EPP families by molecular techniques and reported three new FECH gene mutations comprising approximately 50% (17/36) of Argentinean EPP families considering previous studies 23,42 . The estimated prevalence of EPP in Argentina corresponding to the last census of 2010 is about 1 : 900 000.…”

“…The promoter and exons, including the flanking intronic regions of the FECH gene (GenBank accession number ) were amplified by polymerase chain reaction (PCR) as described by Parera et al. 42 The PCR was carried out in a PTC‐100 Peltier Thermal Cycler (MJ. Research.…”

“…The appropriate fragments containing c.68‐23C>T; c.798G>C and c.921G>A SNPs were amplified as previously described for exon 2, 7 and 9 respectively 42 ; c.1‐251A>G SNP as described by Di Pierro et al. , 50 and c.315‐48T>C according to Wiman et al.…”

“…Genetic variants in the FECH gene include more than 175 mutations 21–46 and 538 single‐nucleotide polymorphisms (SNPs) 47 The functionality of these SNPs (many of unknown significance) may reduce the level of transcription of the FECH gene contributing to the triggering of EPP.…”

Erythropoietic Protoporphyria and X-Linked Dominant Protoporphyria

“…58 In a study on EPP in the Argentinean population, all six patients carried null allele mutations and none had liver involvement. 7 A study of molecular epidemiology of EPP in the UK was published in 2010, which involved a total of 179 patients. 12 Among them, 169 patients had the dominant form of EPP as showed by the genetic analysis.…”