MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.
BACKGROUND
Familial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found.


OBJECTIVE
To analyze the phenotype-genotype correlations in North African Jews and Armenians with FMF.


METHODS
We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armenians with Familial Mediterranean Fever living in France.


RESULTS
M694V mutation was the most common mutation in Jews and in Armenians. Patients with M680I homozygosity or M680I/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.


CONCLUSIONS
This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.
Cattan
D
D
Department of Gastroenterology and Hepatology, Central Hospital, Villeneuve St. George, France. gastvsg@clun-internet.fr
Dervichian
M
M
Thomas
M
M
Dode
C
C
Touitou
I
I
D000352:Africa, Northern / Q000208:ethnology; D001136:Armenia / Q000208:ethnology; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005602:France; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics*
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D011506:Proteins; D000071198:Pyrin