title: MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.
abstract: BACKGROUND
  Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.
  
  
  METHODS
  The study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.
  
  
  RESULTS
  Patients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.
  
  
  CONCLUSIONS
  MEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Samia
authors.initials: S
authors.lastname: Salah
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Samia
authors.initials: S
authors.lastname: Rizk
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Hala M
authors.initials: HM
authors.lastname: Lotfy
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Salma
authors.initials: S
authors.lastname: El Houchi
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Huda
authors.initials: H
authors.lastname: Marzouk
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Yomna
authors.initials: Y
authors.lastname: Farag
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D011695:IgA Vasculitis / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D015995:Prevalence; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Familial Mediterranean fever; Henoch-Schonlein purpura (HSP); MEFV; Mutations