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Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
is
a
genetically
heterogeneous
developmental
disorder
that
associates
hypogonadotropic
hypogonadism
and
anosmia
.
Various
causative
genes
have
been
identified
,
but
their
respective
involvement
in
different
world
regions
is
poorly
documented
.
We
aimed
to
compare
the
prevalence
of
mutations
in
five
routinely
analyzed
KS
genes
between
Maghrebian
and
European
patients
.
Blood
samples
from
120
presumably
unrelated
Maghrebian
patients
were
collected
for
DNA
sequencing
by
the
Sanger
technique
.
The
prevalence
of
the
non-synonymous
mutations
in
KAL
1
,
FGFR
1
,
FGF
8
,
PROKR
2
,
and
PROK
2
was
determined
for
each
gene
,
and
compared
with
those
previously
obtained
from
the
analysis
of
712
European
patients
.
Diverse
mutations
in
PROKR
2
,
a
gene
involved
both
in
monogenic
recessive
and
digenic
/
oligogenic
KS
transmission
modes
,
were
found
in
23
.
3
%
of
the
Maghrebian
patients
,
but
only
in
5
.
1
%
of
the
European
patients
(
Fisher
's
exact
test
,
P
<
0
.
001
)
,
whereas
mutations
in
each
of
the
other
four
KS
genes
were
present
either
at
similar
frequencies
in
the
Maghrebian
and
European
patients
(
KAL
1
,
PROK
2
,
FGF
8
,
from
6
.
6
to
0
.
8
%
;
Fisher
's
exact
test
,
P
>
0
.
4
for
all
comparisons
)
or
at
a
lower
frequency
in
Maghrebian
patients
(
FGFR
1
,
5
.
0
vs
11
.
7
%
;
Fisher
's
exact
test
,
P
<
0
.
05
)
.
Homozygosity
resulting
from
consanguineous
marriages
was
not
sufficient
to
account
for
the
greater
prevalence
of
PROKR
2
mutations
in
the
Maghrebian
patients
.
The
great
prevalence
of
PROKR
2
mutations
in
Maghrebian
patients
has
practical
consequences
for
molecular
diagnosis
of
the
disease
and
genetic
counseling
in
the
Maghrebian
population
.
Diseases
Validation
Diseases presenting
"genetically heterogeneous developmental disorder"
symptom
kallmann syndrome
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