Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

:Seventy-nine unrelated Lebanese patients were tested for 15 mutations in the MEFV gene: A761H, A744S, V726A, K695R, M694V, M694I, M694del, M6801 (G --> C), M680I (G --> A) in exon 10, F479L in exon 5, P369S in exon 3, T267I, E167D and E148Q in exon 2, using PCR digestion, ARMS, DGGE and/or sequencing. Mutations were detected in patients belonging to all communities, most interestingly the Maronite, Greek orthodox, Greek catholic, Syriac and Chiite communities. The most frequent mutations are M694V and V726A (27% and 20% of the total alleles respectively). M694I, E148Q and M680I mutations account respectively for 9%, 8% and 5%. Each of the K695R, E167D and F479L mutations was observed once and all the remaining mutations were not encountered. Of the alleles 33% do not carry any of the studied mutations. The mutation spectra, clinical features and severity of the disease differed among the Lebanese communities. The genotype-phenotype analysis showed a significant association (P < 0.001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). None of the patients carrying other mutations developed amyloidosis.

Mansour I ，Delague V ，Cazeneuve C ，Dodé C ，Chouery E ，Pêcheux C ，Medlej-Hashim M ，Salem N ，El Zein L ，Levan-Petit I ，Lefranc G ，Goossens M ，Delpech M ，Amselem S ，Loiselet J ，Grateau G ，Mégarbane A ，Naman R ... -  《EUROPEAN JOURNAL OF HUMAN GENETICS》

Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.

Bidari A ，Ghavidel-Parsa B ，Najmabadi H ，Talachian E ，Haghighat-Shoar M ，Broumand B ，Ghalehbaghi B ... -  《-》

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

Mattit H ，Joma M ，Al-Cheikh S ，El-Khateeb M ，Medlej-Hashim M ，Salem N ，Delague V ，Mégarbané A ... -  《European Journal of Medical Genetics》

A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.

An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus. Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H. Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%). No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.

Anwar GM ，Fouad HM ，Abd El-Hamid A ，Mahmoud F ，Musa N ，Lotfi H ，Salah N ... -  《-》

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

Gershoni-Baruch R ，Brik R ，Shinawi M ，Livneh A ... -  《EUROPEAN JOURNAL OF HUMAN GENETICS》