Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

Abstract

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.

Familial Mediterranean Fever Patient with Onset of Attacks at the Age of Seventies

“…Symptoms in late onset disease were mild [5]. None of the patients had M694V homozygosity which causes an earlier disease onset, a more severe course, more joint involvement, higher frequency of erysipelas-like erythema, higher doses of colchicine to control the disease [6] or chronic or prolonged manifestations of FMF such as amyloidosis, chronic arthritis, or protracted myalgia [7]. Our patient also has a mild disease without any amyloidosis and responded well to colchicine treatment.…”

High frequency of E148Q sequence variation in children with familial Mediterranean fever in southeast Turkey

“…3,5,[9][10][11][12][13][14][15][16]20,21 The most common mutation characterized in Turks is the M694V mutation with the frequency of 30-50%. The E148Q mutation occurs at a frequency ranging from 1.4-11.4% according to some previous studies.…”

“…2,7 Gene sequence and phenotypic characteristics of FMF patients change according to geographic regions, which include people from certain ethnic origins both in Turkey and in the World. 1,2,[7][8][9][10][11][12][13][14][15][16][17] Unfortunately, there is a paucity of studies that have investigated the genotypic and phenotypic variations of FMF patients in southeast Turkey. 3 Therefore, we aimed to investigate the genotypic and phenotypic characteristics of children with FMF in southeastern Turkey.…”

Alta frecuencia de variación de la secuencia de la mutación E148Q en niños con fiebre mediterránea familiar en el sureste de Turquía

“…2,7 Las características fenotípicas y la secuencia del gen de pacientes con FMF cambian según las regiones geográficas, que incluyen personas de determinados orígenes étnicos tanto en Turquía como en el resto del mundo. 1,2,[7][8][9][10][11][12][13][14][15][16][17] Desafortunadamente, son pocos los estudios en los que se han investigado las variaciones genotípicas y fenotípicas de pacientes con FMF en el sureste de Turquía. 3 Por lo tanto, nuestro objetivo fue investigar las características genotípicas y fenotípicas de niños con FMF en el sureste de Turquía.…”