Different intrafamilial clinical presentation of FMF mutation carriers

Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with...

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Published inGenetic testing Vol. 12; no. 1; p. 125
Main Authors Chalevelakis, Georgios, Apostolakis, Ioannis, Koliou, Xeni, Apessos, Angela, Kyriakopoulou, Vanessa, Vrakidou, Evfimia, Vasilopoulou, Adamantia, Lamnisou, Kleoniki, Nasioulas, Georgios
Format Journal Article
LanguageEnglish
Published United States 01.03.2008
Subjects
Adolescent
Adult
Amino Acid Substitution
Cytoskeletal Proteins - genetics
DNA - genetics
Familial Mediterranean Fever - diagnosis
Familial Mediterranean Fever - genetics
Female
Genotype
Heterozygote
Humans
Male
Mutation
Pedigree
Phenotype
Pyrin
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Summary:Familial Mediterranean fever (FMF) is a heterogeneous disorder; at present, it is diagnosed using only genetic methods. In the current study, we performed molecular analysis in two families presenting with FMF. In the first family, we report two brothers with a common genotype (M694V/V726A) but with different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.
ISSN:1090-6576
DOI:10.1089/gte.2007.0068