Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 10
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
ORIGINAL ARTICLE
Year : 2014  |  Volume : 20  |  Issue : 1  |  Page : 43-50

Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt


1 Department of Pediatrics, Faculty of Medicine, Genetics Unit, Mansoura University, Mansoura 35516, Egypt
2 Department of Genetics Laboratories, Mansoura University Children's Hospital, Mansoura 35516, Egypt
3 Department of Pediatrics, Unit of Tropical Medicine, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt

Correspondence Address:
Mohammad S. Al-Haggar
Department of Pediatrics, Faculty of Medicine, Genetics Unit, Mansoura University, Mansoura 35516
Egypt
Login to access the Email id

Source of Support: Indian Council of Medical Research,, Conflict of Interest: None


DOI: 10.4103/0971-6866.132755

Rights and Permissions

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. Objectives: 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). Subjects And 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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1145    
    Printed36    
    Emailed2    
    PDF Downloaded43    
    Comments [Add]    
    Cited by others 1    

Recommend this journal