PW01-004 – The sequence analysis in E148Q homozygous patients
نویسندگان
چکیده
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease associated with a number of mutations of the MEFV gene. To date 246 variants responsible for the disease were identified, one such a variant is E148Q in exon 2. The role of E148Q variant in the development of FMF remains inconclusive. Some authors believe it causes the disease, whereas others favor the concept of a non causative role.
منابع مشابه
بررسی رابطهی علایم بالینی با تغییرات ژنی در بیماران مبتلا به تب مدیترانهای فامیلی: ارزیابی جهشهای E148Q و M694V
Background and Objective: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by self-limited episodes of fevere and painful recurrent polyserositis that predominantly affects Mediterranean races. In recent years some reports have shown high prevalence of FMF in North-west Iran, with M694V and E148Q being most frequent reported mutations. The aim of this study is...
متن کاملE148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
BACKGROUND Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE To evaluate the ph...
متن کاملPW01-034 – Clinical-genetic investigation of FMF in Armenia
Results Heterozygote carriers associated with abortive and mild FMF features is 18,72%, and 1.29% of patients with clinical features of FMF are without mutations. In some FMF patients “mild” MEFV mutations are associated with inflammatory attacks (P369S: 0.49%; E148Q: 5.09%; A744S: 0.74%). Genotypes E148Q/A744S and E148Q/P369S are found rarely. We have revealed the complex FMF cases with follow...
متن کاملEXTENDED REPORT E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
Background: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. Objective: To evaluate the ph...
متن کاملMEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
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