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Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.
[familial mediterranean fever]
To
date
,
over
200
alterations
have
been
reported
in
Mediterranean
fever
(
MEFV
)
genes
,
but
it
is
not
clear
whether
all
these
alterations
are
disease-causing
mutations
.
This
study
aims
to
evaluate
the
clinical
features
of
the
children
with
R
202
Q
alteration
.
The
medical
records
of
children
with
R
202
Q
alteration
were
reviewed
retrospectively
.
A
total
of
225
children
,
with
113
males
,
were
included
.
Fifty
-
five
patients
were
heterozygous
,
30
patients
were
homozygous
for
R
202
Q
,
and
140
patients
were
compound
heterozygous
.
Classical
familial
Mediterranean
fever
(
FMF
)
phenotype
was
present
in
113
patients
:
2
heterozygous
and
7
homozygous
R
202
Q
,
46
double
homozygous
R
202
Q
and
M
694
V
,
and
58
compound
heterozygous
.
The
main
clinical
characteristics
of
the
patients
were
abdominal
pain
in
71
.
5
Â
%
,
fever
in
37
.
7
Â
%
,
arthralgia
/
myalgia
in
30
.
2
Â
%
,
arthritis
in
10
.
2
Â
%
,
chest
pain
in
14
.
6
Â
%
and
erysipelas
-like
erythema
in
13
.
3
Â
%
.
The
frequency
of
abdominal
pain
was
significantly
lower
in
patients
with
homozygous
R
202
Q
alteration
(
p
 
=
 
0
.
021
)
,
whereas
patients
with
heterozygous
R
202
Q
mutations
,
though
not
statistically
significant
,
had
a
higher
frequency
of
arthralgia
/
myalgia
(
40
.
0
Â
%
,
p
 
=
 
0
.
05
)
.
R
202
Q
alteration
of
the
MEFV
gene
leads
to
symptoms
consistent
with
FMF
in
some
cases
.
This
alteration
may
be
associated
with
a
mild
phenotype
and
shows
phenotypic
differences
other
than
the
common
MEFV
mutations
.
Diseases
Validation
Diseases presenting
"erythema"
symptom
acute rheumatic fever
cowden syndrome
cutaneous mastocytosis
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kindler syndrome
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
neuralgic amyotrophy
omenn syndrome
pyomyositis
thoracic outlet syndrome
This symptom has already been validated