title: Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance.
abstract: OBJECTIVE
  Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive.
  
  
  METHODS
  Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members.
  
  
  RESULTS
  Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance.
  
  
  CONCLUSIONS
  Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Abant Izzet Baysal University, Bolu, Turkey. caglar_m@ibu.edu.tr
authors.forename: Musa Kazim
authors.initials: MK
authors.lastname: Caglar
authors.forename: Fatma Semsa
authors.initials: FS
authors.lastname: Altugan
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Ozyurt
authors.forename: Halil Ibrahim
authors.initials: HI
authors.lastname: Atasoy
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D005192:Family Health; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D000071198:Pyrin; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin