Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells.
[hydrocephalus with stenosis of the aqueduct of sylvius]
Ciliated
ependymal
cells
play
central
functions
in
the
control
of
cerebrospinal
fluid
homeostasis
in
the
mammalian
brain
,
and
defects
in
their
differentiation
or
ciliated
properties
can
lead
to
hydrocephalus
.
Regulatory
factor
X
(
RFX
)
transcription
factors
regulate
genes
required
for
ciliogenesis
in
the
nematode
,
drosophila
and
mammals
.
We
show
here
that
Rfx
3
-
deficient
mice
suffer
from
hydrocephalus
without
stenosis
of
the
aqueduct
of
Sylvius
.
RFX
3
is
expressed
strongly
in
the
ciliated
ependymal
cells
of
the
subcommissural
organ
(
SCO
)
,
choroid
plexuses
(
CP
)
and
ventricular
walls
during
embryonic
and
postnatal
development
.
Ultrastructural
analysis
revealed
that
the
hydrocephalus
is
associated
with
a
general
defect
in
CP
differentiation
and
with
severe
agenesis
of
the
SCO
.
The
specialized
ependymal
cells
of
the
CP
show
an
altered
epithelial
organization
,
and
the
SCO
cells
lose
their
characteristic
ultrastructural
features
and
adopt
aspects
more
typical
of
classical
ependymal
cells
.
These
differentiation
defects
are
associated
with
changes
in
the
number
of
cilia
,
although
no
obvious
ultrastructural
defects
of
these
cilia
can
be
observed
in
adult
mice
.
Moreover
,
agenesis
of
the
SCO
is
associated
with
downregulation
of
SCO-spondin
expression
as
early
as
E
14
.
5
of
embryonic
development
.
These
results
demonstrate
that
RFX
3
is
necessary
for
ciliated
ependymal
cell
differentiation
in
the
mouse
.
Diseases
Validation
Diseases presenting
"changes in the number of cilia"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom