title: A study of familial Mediterranean Fever (MEFV) gene mutations in Egyptian children with type 1 diabetes mellitus.
abstract: OBJECTIVE
  An association of type 1 DM and familial Mediterranean fever (FMF) has been newly reported in the medical literature. The aim of the present work was to investigate frequency of MEFV gene mutations in Egyptian children with type 1 diabetes mellitus.
  
  
  METHODS
  Forty five children with type 1 DM were screened for Mediterranean Fever (MEFV) gene mutation. Forty one healthy control subjects were included. Identification of FMF gene mutation was done based on polymerase chain reaction (PCR) and reverse hybridization. The assay covers 12 mutations in the FMF gene: E148Q - P369S - F479L - M680I (G/C) - M680I (G/A) - I692del - M694V - M694I - K695R-V726A - A744S and R761H.
  
  
  RESULTS
  Among the screened diabetics, the overall frequency of MEFV gene mutations was 42.2% and among the control group it was 34.1% with no significant difference. Fourteen out of 45 diabetic children (31.1%) were heterozygous (E148Q in 7 children, A744S in 3 children, V726A in 2 children, M680I (G/C) in 1 child and P369S in1 child), while 5 children (11.1%) were compound heterozygous (M694V/M694I in 2 children, E148Q/K695R mutations in 1 child, E148Q/M694I in 1 child and E148Q/V726A in 1 child). The control group showed heterozygous mutation in 34.1% of cases (E148Q mutation in 14.6%, V726A in 12.2%, M680I (G/C) in 4.9% and M694V in 2.4%).
  
  
  CONCLUSIONS
  No significant difference in mutation frequency between diabetic and non-diabetic children. We have high carrier rate of MEFV gene mutations among Egyptian population probably due to high consanguinity.
authors.affiliation: Pediatric Department, Cairo University, Cairo, Egypt.
authors.forename: Ghada Mohammad
authors.initials: GM
authors.lastname: Anwar
authors.affiliation: Pediatric Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt. Electronic address: hananminaped@gmail.com.
authors.forename: Hanan M
authors.initials: HM
authors.lastname: Fouad
authors.affiliation: Pediatric Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt.
authors.forename: Amal
authors.initials: A
authors.lastname: Abd El-Hamid
authors.affiliation: Chemical Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt.
authors.forename: Faten
authors.initials: F
authors.lastname: Mahmoud
authors.affiliation: Pediatric Department, Cairo University, Cairo, Egypt.
authors.forename: Noha
authors.initials: N
authors.lastname: Musa
authors.affiliation: Pediatric Department, Cairo University, Cairo, Egypt.
authors.forename: Hala
authors.initials: H
authors.lastname: Lotfi
authors.affiliation: Pediatric Department, Cairo University, Cairo, Egypt.
authors.forename: Nermine
authors.initials: N
authors.lastname: Salah
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D004534:Egypt / Q000453:epidemiology; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Children; Familial Mediterranean fever; MEFV gene mutation; Type 1 diabetes