title: Familial Mediterranean fever in Syrian children: phenotype-genotype correlation.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serosal membranes. In this study, 103 unrelated Syrian children were included. Mutation screening of the MEditerranean FeVer gene was performed for 12 mutations. Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch-Schonlein purpura in 1 (0.97 %). The most frequent mutation was M694V. In order to determine the association between M694V and clinical features of FMF, we compared the disease features between patients with and without this mutation. The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation.
authors.affiliation: Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS), P.O.Box 6091, Damascus, Syria, ascientific@aec.org.sy.
authors.forename: Rami A
authors.initials: RA
authors.lastname: Jarjour
authors.forename: Sumaya
authors.initials: S
authors.lastname: Al-Berrawi
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D011695:IgA Vasculitis / Q000150:complications / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D012720:Severity of Illness Index; D013593:Syria
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin