A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.
OBJECTIVE
Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs. The aim of this study was to determine the frequency and spectrum of 12 MEFV mutations of these patients and any genotype-phenotype correlation in this large Turkish group.


METHODS
A retrospective study at Erciyes University Medical Faculty, from January 2007 to June 2009.


METHODS
We enrolled 446 Turkish FMF patients and identified the known 12 MEFV mutations with clinical investigations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations.


RESULTS
Among the 446 patients, 103 (46.6%) had a heterozygous genotype, 44 (19.9%) had a homozygous genotype, and 74 (33.49%) had a compound heterozygous genotype. The most common mutation detected was heterozygote M694V (46/221). Of the included 446 patients, 218 (48.87%) were male and 228 (51.12%) were female. High parental consanguinity rates affect FMF development. The clinical spectrum varied with different mutation profiles.


CONCLUSIONS
This study plays an important role in detecting the distribution of MEFV mutations and determining clinical approaches among Turk FMF patients. Also, we seemed to detect a distinctive clinical picture, specifically a lower frequency of amyloidosis.
Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey. dundar@erciyes.edu.tr
Munis
M
Dundar
Aslihan
A
Kiraz
Elif Funda
EF
Emirogullari
Ccedil Etin
CE
Saatci
Serpil
S
Taheri
Mevlut
M
Baskol
Seher
S
Polat
Yusuf
Y
Ozkul
D000293:Adolescent; D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000453:epidemiology* / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009693:Nucleic Acid Hybridization / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D000071198:Pyrin; D012189:Retrospective Studies; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D004247:DNA