Background: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. Methods: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the deletion in his ferrochelatase (FECH) gene. Results: The combination of the deletion and the polymorphisms reduced his FECH activity level to 20% of control. Conclusions: It is conceivable that a homozygous state for this polymorphic haplotype might be sufficient to produce clinical phenotype of EPP. The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.
|Titolo:||A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria|
CAPPELLINI, MARIA DOMENICA (Penultimo)
|Parole Chiave:||Deletion; Erythropoietic protoporphyria; FECH gene; Polymorphisms|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||gen-2009|
|Digital Object Identifier (DOI):||10.1515/CCLM.2009.010|
|Appare nelle tipologie:||01 - Articolo su periodico|