title: Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.
abstract: BACKGROUND
  Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations.
  
  
  OBJECTIVE
  The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A).
  
  
  METHODS
  Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA).
  
  
  RESULTS
  Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive.
  
  
  CONCLUSIONS
  M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.
authors: Department of Pediatrics, Faculty of Medicine, Genetics Unit, Mansoura University, Mansoura 35516, Egypt.
authors: Mohammad S
authors: MS
authors: Al-Haggar
authors: Department of Pediatrics, Faculty of Medicine, Genetics Unit, Mansoura University, Mansoura 35516, Egypt.
authors: Sohier
authors: S
authors: Yahia
authors: Department of Pediatrics, Faculty of Medicine, Genetics Unit, Mansoura University, Mansoura 35516, Egypt.
authors: Dina
authors: D
authors: Abdel-Hady
authors: Department of Genetics Laboratories, Mansoura University Children's Hospital, Mansoura 35516, Egypt.
authors: Afaf
authors: A
authors: Al-Saied
authors: Department of Pediatrics, Unit of Tropical Medicine, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt.
authors: Rasha
authors: R
authors: Al-Kenawy
authors: Department of Genetics Laboratories, Mansoura University Children's Hospital, Mansoura 35516, Egypt.
authors: Rabab
authors: R
authors: Abo-El-Kasem
keywords: Amyloidosis; M694V; Mediterranean fever gene; familial Mediterranean fever