title: Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria.
abstract: A ferrochelatase (FC) mRNA lacking exon 4 was detected in a patient with erythropoietic protoporphyria (EPP). The mutation responsible for the exon skipping was a novel one: a G-->C transition at the -1 position of the exon 4 donor site (nucleotide 463). The efficiency of missplicing was not 100%. The same mutation could alternatively result in exon 4 skipping or act as a missense mutation (G463-->C, predicting an Ala155-->Pro substitution), that inactivates the FC activity almost completely. Both parents were negative for the mutation and DNA fingerprinting indicated that both of them are the biological parents with 99.58% certainty. This is the first report of a de novo mutation in EPP.
authors.affiliation: Department of Pediatrics, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: X
authors.initials: X
authors.lastname: Wang
mesh_terms: D017398:Alternative Splicing; D002648:Child; D004920:Erythropoiesis; D005091:Exons; D005260:Female; D005294:Ferrochelatase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000201:enzymology* / Q000235:genetics; D013329:Structure-Activity Relationship
chemical_list: D005294:Ferrochelatase