TY - JOUR
TI - Familial Mediterranean fever and E148Q pyrin gene mutation in Greece
AU - Konstantopoulos, K
AU - Kanta, A
AU - Lilakos, K
AU - Papanikolaou, G and
AU - Meletis, I
JO - International Journal of Hematologic Oncology
PY - 2005
VL - 81
TODO - 1
SP - 26-28
PB - SPRINGER JAPAN KK
SN - 2045-1393, 2045-1407
TODO - 10.1532/IJH97.E0422
TODO - familial Mediterranean fever; MEFV gene; pyrin; mutation E148Q; Greece
TODO - Familial Mediterranean fever (FMF) is an inherited disease characterized
by recurrent inflammatory polyserositis. Although FMF is classically
expected only in Middle East populations, it is becoming evident that
the disease affects more groups than initially thought. The disease is
associated with a number of mutations of the MEFV gene, which codes for
a protein named pyrin. The role of E148Q pyrin gene mutation in the
development of FMF remains inconclusive. Some authors believe it causes
the disease, whereas others favor the concept of a noncausative role. To
understand better the role of this mutation, gathering data from
different populations may be of value. We studied 60 Greek cases
fulfilling the criteria for FMF diagnosis, 30 cases being a definite FMF
diagnosis and 30 a probable diagnosis. Twenty-one of the patients,
carried mutation E148Q. One was a homozygote (E148Q/E148Q), and 20
carried mutation E148Q in combination with other mutations (compound
heterozygotes). In 6 of the 60 cases studied, no mutations were found.
Compared with the results for healthy controls, E148Q mutation is
significantly frequent. Because different populations may exhibit
different patterns of pyrin mutations, association of the E148Q mutation
with FMF should be considered in connection with origin data. (C) 2005
The Japanese Society of Hematology.
ER -