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PROK2/PROKR2 Signaling and Kallmann Syndrome.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
is
a
developmental
disease
that
associates
hypogonadism
and
a
deficiency
of
the
sense
of
smell
.
The
reproductive
phenotype
of
KS
results
from
the
primary
interruption
of
the
olfactory
,
vomeronasal
,
and
terminal
nerve
fibers
in
the
frontonasal
region
,
which
in
turn
disrupts
the
embryonic
migration
of
neuroendocrine
gonadotropin-releasing
hormone
(
GnRH
)
synthesizing
cells
from
the
nose
to
the
brain
.
This
is
a
highly
heterogeneous
genetic
disease
,
and
mutations
in
any
of
the
nine
genes
identified
so
far
have
been
found
in
approximately
30
%
of
the
KS
patients
.
PROKR
2
and
PROK
2
,
which
encode
the
G
protein-coupled
prokineticin
receptor-
2
and
its
ligand
prokineticin-
2
,
respectively
,
are
two
of
these
genes
.
Homozygous
knockout
mice
for
the
orthologous
genes
exhibit
a
phenotype
reminiscent
of
the
KS
features
,
but
biallelic
mutations
in
PROKR
2
or
PROK
2
(
autosomal
recessive
mode
of
disease
transmission
)
have
been
found
only
in
a
minority
of
the
patients
,
whereas
most
patients
carrying
mutations
in
these
genes
are
heterozygotes
.
The
mutations
,
mainly
missense
mutations
,
have
deleterious
effects
on
PROKR
2
signaling
in
transfected
cells
,
ranging
from
defective
cell
surface-targeting
of
the
receptor
to
defective
coupling
to
G
proteins
or
impaired
receptor-ligand
interaction
,
but
the
same
mutations
have
also
been
found
in
apparently
unaffected
individuals
,
which
suggests
a
digenic
/
oligogenic
mode
of
inheritance
of
the
disease
in
heterozygous
patients
.
This
non-
Mendelian
mode
of
inheritance
has
so
far
been
confirmed
only
in
a
few
patients
.
However
,
it
may
account
for
the
unusually
high
proportion
of
KS
sporadic
cases
compared
to
familial
cases
.
Diseases
Validation
Diseases presenting
"highly heterogeneous genetic disease"
symptom
kallmann syndrome
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