title: MEFV gene mutations in Henoch-Schönlein purpura.
abstract: OBJECTIVE
  Coexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schönlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated.
  
  
  METHODS
  The study group comprised 68 children (36 boys and 32 girls) diagnosed as having HSP. The spectrum and degree of organ involvement and the levels of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were documented for each patient. Allele-specific PCR using oligonucleotide probes which include 12 MEFV mutations (E148Q, P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H) were used for mutation analysis.
  
  
  RESULTS
  Of the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had MEFV mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened MEFV mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for E148Q/E148Q mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with MEFV mutations, while ESR and CRP levels were significantly higher (P < 0.05) in patients with MEFV mutations.
  
  
  CONCLUSIONS
  MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.
authors: Department ofPaediatrics, Kirirkkale University Medical School, Ankara, Turkey.
authors: Umut
authors: U
authors: Altug
authors: Cuneyt
authors: C
authors: Ensari
authors: Derya B
authors: DB
authors: Sayin
authors: Arzu
authors: A
authors: Ensari
mesh_terms: D000293:Adolescent; D001799:Blood Sedimentation; D002097:C-Reactive Protein / Q000032:analysis; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D011695:IgA Vasculitis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D018836:Inflammation Mediators / Q000097:blood; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011379:Prognosis; D000071198:Pyrin; D012307:Risk Factors
chemical_list: D003598:Cytoskeletal Proteins; D018836:Inflammation Mediators; C000604192:MEFV protein, human; D000071198:Pyrin; D002097:C-Reactive Protein
keywords: MEFV gene; Schönlein‐Henoch; familial Mediterranean fever; purpura