PMID- 10364520
OWN - NLM
STAT- MEDLINE
DCOM- 19990805
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 1
DP  - 1999 Jul
TI  - MEFV-Gene analysis in armenian patients with Familial Mediterranean fever:
      diagnostic value and unfavorable renal prognosis of the M694V homozygous
      genotype-genetic and therapeutic implications.
PG  - 88-97
AB  - Familial Mediterranean fever (FMF) is a recessively inherited disorder that is
      common in patients of Armenian ancestry. To date, its diagnosis, which can be
      made only retrospectively, is one of exclusion, based entirely on nonspecific
      clinical signs that result from serosal inflammation and that may lead to
      unnecessary surgery. Renal amyloidosis, prevented by colchicine, is the most
      severe complication of FMF, a disorder associated with mutations in the MEFV
      gene. To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we
      investigated 90 Armenian FMF patients from 77 unrelated families that were not
      selected through genetic-linkage analysis. Eight mutations, one of which (R408Q) 
      is new, were found to account for 93% of the 163 independent FMF alleles, with
      both FMF alleles identified in 89% of the patients. In several instances, family 
      studies provided molecular evidence for pseudodominant transmission and
      incomplete penetrance of the disease phenotype. The M694V homozygous genotype was
      found to be associated with a higher prevalence of renal amyloidosis and
      arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). The 
      demonstration of both the diagnostic and prognostic value of MEFV analysis and
      particular modes of inheritance should lead to new ways for management of
      FMF-including genetic counseling and therapeutic decisions in affected families.
FAU - Cazeneuve, C
AU  - Cazeneuve C
AD  - 1Service de Biochimie et de Genetique Moleculaire and the Institut National de la
      Sante et de la Recherche Medicale (Unite 468), Hopital, Mondor, France.
FAU - Sarkisian, T
AU  - Sarkisian T
FAU - Pecheux, C
AU  - Pecheux C
FAU - Dervichian, M
AU  - Dervichian M
FAU - Nedelec, B
AU  - Nedelec B
FAU - Reinert, P
AU  - Reinert P
FAU - Ayvazyan, A
AU  - Ayvazyan A
FAU - Kouyoumdjian, J C
AU  - Kouyoumdjian JC
FAU - Ajrapetyan, H
AU  - Ajrapetyan H
FAU - Delpech, M
AU  - Delpech M
FAU - Goossens, M
AU  - Goossens M
FAU - Dode, C
AU  - Dode C
FAU - Grateau, G
AU  - Grateau G
FAU - Amselem, S
AU  - Amselem S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (Gout Suppressants)
RN  - 0 (MEFV protein, human)
RN  - 0 (Proteins)
RN  - 0 (Pyrin)
RN  - SML2Y3J35T (Colchicine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Armenia
MH  - Child
MH  - Child, Preschool
MH  - Colchicine/pharmacology
MH  - Cytoskeletal Proteins
MH  - Familial Mediterranean Fever/*diagnosis/ethnology/*genetics
MH  - Female
MH  - Genetic Testing
MH  - Genotype
MH  - Gout Suppressants/pharmacology
MH  - Humans
MH  - Kidney Diseases/diagnosis
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Proteins/*genetics
MH  - Pyrin
PMC - PMC1378078
EDAT- 1999/06/12 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/06/12 10:00
PHST- 1999/06/12 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/06/12 10:00 [entrez]
AID - S0002-9297(07)63731-8 [pii]
AID - 10.1086/302459 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jul;65(1):88-97. doi: 10.1086/302459.