The Spectrum of Familial Mediterranean Fever Gene Mutations in Arabs: Report of a Large Series
Section snippets
Patients and Methods
All patients were of Jordanian or Palestinian Arab origin and were referred by their physicians for diagnosis, management, genetic study, and counseling. The study was performed in the FMF clinic of Jordan University Hospital for 4 years (from September 1999 through August 2003). A clinical diagnosis of FMF was made according to published criteria. [Major criteria: attacks involving the abdomen, chest, joints, skin, and scrotum muscle and typical attacks of fever. Minor criteria: exertional
Results
Over the period of 4 years, 482 patients with a clinical diagnosis of FMF were referred to the FMF clinic of Jordan University Hospital, where they were tested for the 5 previously mentioned mutations. Of these, 407 unrelated index patients (probands) were entered in the study: 189 (46%) were male and 218 (54%) were female. The other 75 family members were excluded because of the nature of the study, addressing an unrelated group of index patients. A positive family history of FMF was present
Discussion
FMF is the prototype of a group of new disorders, known as hereditary periodic fever syndromes, as well as auto-inflammatory disorders (18). The other prominent members of this group are the hyper IgD and periodic fever syndrome (HIDS) (19, 20), the tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) (21) (initially described as familial Hibernian fever (22, 23)), and the FMF-like syndrome with amyloidosis (24, 25).
The cloning of the MEFV proved to be of great help for
Acknowledgment
The authors are grateful to the families who participated in this study. Dr. H. El-Shanti is supported by “Chaire Internationale de Recherche, Blaise Pascal, de l’etat et de la Règion d’Ile-de-France,” which is managed with further support by the “Fondation de l’Ecole Normale Supèrieure.” Dr. M.S. El-Khateeb is supported by a grant from the University of Jordan.
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Effects of mating patterns on genealogical trees: Assessment of the high carrier rate of Familial Mediterranean Fever in rural Israeli districts
2018, Journal of Theoretical BiologyThe spectrum of Familial Mediterranean Fever gene (MEFV) mutations and genotypes in Iran, and report of a novel missense variant (R204H)
2017, European Journal of Medical GeneticsCitation Excerpt :Mutations V726A and M680I with the population frequency of 4.1%, 3.8% respectively were the fourth and fifth common mutations. V726A frequently has been reported as one of three common mutations in Turkish, Iranian Azeri Turks and Arabs (Bonyadi et al., 2009; Esmaeili et al., 2008; Majeed et al., 2005; Salehzadeh et al., 2015). In our study, V726A mutation with the 6.4% mutation frequency among Azeri Turks was in the third common mutation along with M694I and M680I (Table 6).
Familial Mediterranean fever in the Iranian population: MEFV mutations in different ethnic groups
2014, Indian Journal of Rheumatology
Both Dr. El-Shanti and Mr. Tayeh are now at the University of Iowa, Iowa City, IA, USA