Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.
BACKGROUND
Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein. In this study, we analyzed the most common five mutations in MEFV gene of 202 patients who were diagnosed formerly as FMF according to Tel-Hashomer criteria. The results of genetical analysis, clinical symptoms, and demographical aspects of those patients were evaluated retrospectively.


RESULTS
Between the dates of February 2005 and March 2007, we analyzed five common MEFV gene mutations, which were M680I, M694V, M694I, V726A, and E148Q, in 202 patients by the PCR-ELISA method in our medical genetics laboratory. The most frequent mutation detected in our patients was M694V, and other mutations according to frequency were E148Q, M680I, V726A, and M694I. The detected mutations were homozygous in 45 of the patients (22.2%), heterozygous in 103 (51%), compound heterozygous in 52 (25.8%), and in 2 patients (1%) complex alleles were defined. The most common symptom was abdominal pain (80.4%) and other symptoms, respectively, were fever (57.8%), arthralgia (36.7%), chest pain (4.5%), and skin rash (2%). Amyloidosis was present in seven patients, and five of them had M694V mutation (homozygous), one of them had E148Q (heterozygous) mutation, and the other one had M694V/M694I mutation.


CONCLUSIONS
In our patients, we defined 21 different genotypes of MEFV gene and the most common mutation was M694V. The most common symptoms were abdominal pain and fever. We detected significant correlation between the M694V, E148Q, and V726A mutations and clinical findings.
Solak
Mustafa
M
Department of Medical Biology, Faculty of Medicine, Afyonkarahisar Kocatepe University, Afyonkarahisar, Turkey. solakmtr@yahoo.com
Yildiz
Handen
H
Koken
Resit
R
Erdogan
Muggan
M
Eser
Betul
B
Sen
Tolga
T
Evirgen
Neslihan
N
Erdem
Solmaz
S
Arikan
Eurim
E
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D000686:Amyloidosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D055815:Young Adult