PMID- 10024914
OWN - NLM
STAT- MEDLINE
DCOM- 19990308
LR  - 20190513
IS  - 1460-2725 (Print)
IS  - 1460-2393 (Linking)
VI  - 91
IP  - 9
DP  - 1998 Sep
TI  - Pyrin/marenostrin mutations in familial Mediterranean fever.
PG  - 603-6
AB  - Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is
      frequently complicated by reactive systemic (AA) amyloidosis. It is principally
      recognized in certain Mediterranean populations, and the diagnosis depends on
      clinical features. Four mutations strongly linked to FMF have lately been
      identified in a gene encoding a novel protein that has been named pyrin or
      marenostrin. We studied 27 consecutive patients of varied ethnic origin,
      including an English man, who had classical, probable or possible FMF.
      Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using 
      serum amyloid P component scintigraphy. Among the 23 patients with classical or
      probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin
      mutations, and in five, only single allele mutations were identified. Two new
      mutations, T6811 and delta M694, were discovered in addition to the four
      described previously. No mutations were identified in three of the four patients 
      with possible FMF. Nine patients had AA amyloidosis, but this association was not
      restricted to any particular genotype. Most patients with FMF have mutations in
      both pyrin/marenostrin alleles, and genotyping at this locus is a valuable
      diagnostic test. Unidentified second mutations are likely to occur in FMF
      patients who have apparently solitary mutations, and therefore genotype results
      must be interpreted in conjunction with the clinical picture.
FAU - Booth, D R
AU  - Booth DR
AD  - Immunological Medicine Unit, Imperial College School of Medicine, Hammersmith
      Hospital, London, UK.
FAU - Gillmore, J D
AU  - Gillmore JD
FAU - Booth, S E
AU  - Booth SE
FAU - Pepys, M B
AU  - Pepys MB
FAU - Hawkins, P N
AU  - Hawkins PN
LA  - eng
PT  - Journal Article
PL  - England
TA  - QJM
JT  - QJM : monthly journal of the Association of Physicians
JID - 9438285
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (MEFV protein, human)
RN  - 0 (Proteins)
RN  - 0 (Pyrin)
SB  - IM
MH  - Base Sequence
MH  - Cytoskeletal Proteins
MH  - Familial Mediterranean Fever/*genetics
MH  - Gene Deletion
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation/*genetics
MH  - Proteins/*genetics
MH  - Pyrin
EDAT- 1999/02/20 00:00
MHDA- 1999/02/20 00:01
CRDT- 1999/02/20 00:00
PHST- 1999/02/20 00:00 [pubmed]
PHST- 1999/02/20 00:01 [medline]
PHST- 1999/02/20 00:00 [entrez]
AID - 10.1093/qjmed/91.9.603 [doi]
PST - ppublish
SO  - QJM. 1998 Sep;91(9):603-6. doi: 10.1093/qjmed/91.9.603.