Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance.
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.
Caglar
Musa Kazim
MK
Department of Pediatrics, Faculty of Medicine, Abant Izzet Baysal University, Bolu, Turkey. caglar_m@ibu.edu.tr
Altugan
Fatma Semsa
FS
Ozyurt
Hüseyin
H
Atasoy
Halil Ibrahim
HI
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin