PMID- 10234504
OWN - NLM
STAT- MEDLINE
DCOM- 19990628
LR  - 20220408
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 3
DP  - 1999 Apr
TI  - Phenotype-genotype correlation in familial Mediterranean fever: evidence for an
      association between Met694Val and amyloidosis.
PG  - 287-92
AB  - Familial Mediterranean fever (FMF) is an autosomal recessive disease
      characterised by recurrent attacks of inflammation of serosal membranes.
      Amyloidosis is the most severe complication of the disease. The aim of this study
      was to investigate the genotype-phenotype correlation and specifically the
      association between amyloidosis and the four common mutations in exon 10 of the
      gene causing FMF (MEFV) in a total of 83 FMF families from three ethnic groups:
      North African Jews, Armenians and Turks. A significant association was found
      between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR =
      1.41, P = 0.02). Amyloidosis was present in 18 out of 87 homozygous FMF patients 
      (20.7%) and in only two out of the 41 compound heterozygous FMF patients (4.9%). 
      No patients carrying other mutations had amyloidosis. There was no significant
      association between the various mutations and the type or severity of the FMF
      symptoms. This finding underscores the importance of performing molecular studies
      on all suspect FMF patients. In addition to providing accurate diagnosis, these
      tests allow identification of presymptomatic genetically affected individuals,
      detection of carriers and assessment of the risk for amyloidosis in later life.
FAU - Shohat, M
AU  - Shohat M
AD  - Department of Medical Genetics, Rabin Medical Center, Petah Tikva, Israel.
      mshohat@ccsg.tau.ac.il
FAU - Magal, N
AU  - Magal N
FAU - Shohat, T
AU  - Shohat T
FAU - Chen, X
AU  - Chen X
FAU - Dagan, T
AU  - Dagan T
FAU - Mimouni, A
AU  - Mimouni A
FAU - Danon, Y
AU  - Danon Y
FAU - Lotan, R
AU  - Lotan R
FAU - Ogur, G
AU  - Ogur G
FAU - Sirin, A
AU  - Sirin A
FAU - Schlezinger, M
AU  - Schlezinger M
FAU - Halpern, G J
AU  - Halpern GJ
FAU - Schwabe, A
AU  - Schwabe A
FAU - Kastner, D
AU  - Kastner D
FAU - Rotter, J I
AU  - Rotter JI
FAU - Fischel-Ghodsian, N
AU  - Fischel-Ghodsian N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (MEFV protein, human)
RN  - 0 (Proteins)
RN  - 0 (Pyrin)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Adolescent
MH  - Amyloidosis/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Cytoskeletal Proteins
MH  - Familial Mediterranean Fever/*genetics/physiopathology
MH  - Female
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Methionine/*genetics
MH  - Phenotype
MH  - Proteins/*genetics
MH  - Pyrin
MH  - Valine/*genetics
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200303 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Apr;7(3):287-92. doi: 10.1038/sj.ejhg.5200303.