title: Detection of Mediterranean fever gene mutations in Egyptian children with inflammatory bowel disease.
abstract: OBJECTIVE
  The aim of the current study is to investigate the prevalence of familial Mediterranean fever gene (MEFV) mutations in a cohort of Egyptian children with inflammatory bowel disease (IBD), and to characterize familial Mediterranean fever (FMF)-IBD patients, helping better understanding of IBD pathogenesis.
  
  
  METHODS
  The study enrolled 17 patients with ulcerative colitis (UC), 15 with Crohn's disease(CD), 10 with indeterminate colitis (IC) and 33 healthy children as controls. All cases and controls were tested for 12 FMF gene mutations by reverse hybridization after multiplex polymerase chain reaction amplification and DNA sampling.
  
  
  RESULTS
  Eighty-eight percent of the IBD patients carried the mutations, with Sequence variant V627A being the commonest versus 42.4% of controls. No associations were found between MEFV gene mutations, and phenotypic characteristics of IBD patients.
  
  
  CONCLUSIONS
  IBD patients, in populations with a high background carrier rate of MEFV variants, should be screened for MEFV gene mutations, especially those diagnosed as indeterminate colitis. Testing larger numbers of healthy Egyptian children for MEFV gene mutation is important to further determine the allele frequency in Egypt.
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 Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Mortada
authors.initials: M
authors.lastname: El-Shabrawi
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Hala Mohamed
authors.initials: HM
authors.lastname: Lotfy
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Hala Fathy
authors.initials: HF
authors.lastname: Shiba
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Maha
authors.initials: M
authors.lastname: Abou-Zekri
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Yomna
authors.initials: Y
authors.lastname: Farag
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003093:Colitis, Ulcerative / Q000175:diagnosis / Q000235:genetics*; D003424:Crohn Disease / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D000071198:Pyrin / Q000235:genetics*
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin
keywords: disease; etiology and pathogenesis - human; immunogenetics; paediatric rheumatology; pediatric rheumatology; sasic sciences