Source:http://linkedlifedata.com/resource/pubmed/id/11039124
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2001-1-23
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pubmed:abstractText |
Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of ferrochelatase (FECH) which catalyses the chelation of iron into protoporphyrin to form haem. The majority of EPP patients experience solely a painful photosensitivity whereas a small number of them develop liver complications due to the accumulation of excessive amount of protoporphyrin in the liver. EPP is considered to be an autosomal dominant disorder, however, with a low clinical penetrance. To date, a total of 65 different mutations have been identified in the FECH gene of EPP patients. Among the 89 EPP patients who carry a "null allele" mutation which results in the formation of a truncated protein, 18 of them developed EPP-related liver complications. None of the 16 missense mutations identified among 19 patients on the other hand, have been associated with liver disease (P = 0.038). The allelic constellation of an overt patient consists of a mutated FECH allele and a "low expressed" normal allele and that of an asymptomatic carrier, a combination of a mutated and a normally expressed FECH allele. The identification of the "low expressed" allele is facilitated by haplotype analysis using two single nucleotide polymorphisms, -251 A/G in the promoter region and IVS1-23C/T. At the current time when only partially effective therapies are available, the disclosures of both "null allele" and the "low expression" mechanisms will improve patient management. CONCLUSION: While covering the important clinical aspect of erythropoietic protoporphyria, this article emphasises the latest achievements in the molecular genetics of the disorder.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0340-6199
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
159
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
719-25
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pubmed:dateRevised |
2005-11-16
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pubmed:meshHeading |
pubmed-meshheading:11039124-Alleles,
pubmed-meshheading:11039124-Ferrochelatase,
pubmed-meshheading:11039124-Genetic Predisposition to Disease,
pubmed-meshheading:11039124-Heterozygote,
pubmed-meshheading:11039124-Humans,
pubmed-meshheading:11039124-Liver Diseases,
pubmed-meshheading:11039124-Lymphocytes,
pubmed-meshheading:11039124-Mutation,
pubmed-meshheading:11039124-Phenotype,
pubmed-meshheading:11039124-Photosensitivity Disorders,
pubmed-meshheading:11039124-Polymorphism, Genetic,
pubmed-meshheading:11039124-Porphyria, Hepatoerythropoietic,
pubmed-meshheading:11039124-Protoporphyria, Erythropoietic,
pubmed-meshheading:11039124-Switzerland
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pubmed:year |
2000
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pubmed:articleTitle |
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
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pubmed:affiliation |
Zentrallabor, Stadtspital Triemli, Zürich, Switzerland.
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pubmed:publicationType |
Journal Article,
Review
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