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 different clinical presentation. In the second family, we identified the M694V and K695R mutations in a presymptomatic carrier.
Chalevelakis
Georgios
G
Department of Internal Medicine, Hospital "Henry Dunant," Athens, Greece.
Apostolakis
Ioannis
I
Koliou
Xeni
X
Apessos
Angela
A
Kyriakopoulou
Vanessa
V
Vrakidou
Evfimia
E
Vasilopoulou
Adamantia
A
Lamnisou
Kleoniki
K
Nasioulas
Georgios
G
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D004247:DNA