11464238

Source:http://linkedlifedata.com/resource/pubmed/id/11464238

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0031069, umls-concept:C2827424
pubmed:issue	7
pubmed:dateCreated	2001-7-20
pubmed:abstractText	Familial Mediterranean Fever (FMF) is the prototype of a group of inherited inflammatory disorders. The gene (MEFV) responsible for this disease, comprises 10 exons and 781 codons. Twenty-nine mutations, most located in the last exon, have been identified so far. It is unclear whether all are true disease-causing mutations. Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks). Rare mutations are preferentially found in populations not usually affected by FMF (eg Europeans not from the above ancestries). The various combinations of MEFV mutations define severe to mild genotypes. The trend is that genotypes including two mutations located within mutational 'hot-spots' (codons 680 or 694) of the gene are associated with severe phenotypes, whereas mild phenotypes are associated with some other mutations, E148Q being the mildest and least penetrant. Understanding the correlation between the FMF phenotype and genotype is further obscured by the existence of complex alleles, modifier loci, genetic heterogeneity and possible epigenetic factors. Additionally, mutations in the MEFV gene are thought to be involved in non FMF disorders. Carrier rates for FMF mutations may be as high as 1:3 in some populations, suggesting that the disease is underdiagnosed. This review update emphasises that both clinical and genetic features are to be taken into account for patient diagnosis, colchicine treatment and prognosis.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9302235
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	1018-4813
pubmed:author	pubmed-author:TouitouII
pubmed:issnType	Print
pubmed:volume	9
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	473-83
pubmed:dateRevised	2006-11-15
pubmed:meshHeading	pubmed-meshheading:11464238-Familial Mediterranean Fever, pubmed-meshheading:11464238-Gene Frequency, pubmed-meshheading:11464238-Genes, pubmed-meshheading:11464238-Genotype, pubmed-meshheading:11464238-Humans, pubmed-meshheading:11464238-Mutation
pubmed:year	2001
pubmed:articleTitle	The spectrum of Familial Mediterranean Fever (FMF) mutations.
pubmed:affiliation	Hopital A de Villeneuve, Montpellier, France. isabelle.touitou@igh.cnrs.fr
pubmed:publicationType	Journal Article, Review, Research Support, Non-U.S. Gov't