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C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
[wolf-hirschhorn syndrome]
In
order
to
identify
novel
genes
involved
in
mental
retardation
/
intellectual
disability
,
we
focused
on
a
microdeletion
reported
in
a
patient
with
a
mild
form
of
Wolf-
Hirschhorn
syndrome
.
This
patient
presented
with
attention
-deficit
hyperactivity
disorder
,
some
learning
and
fine
motor
deficits
as
well
as
facial
abnormalities
.
The
deleted
region
included
three
genes
.
Here
,
we
report
the
first
characterization
of
one
of
these
genes
,
C
4
ORF
48
.
C
4
ORF
48
encodes
a
short
(
139
aa
)
evolutionarily
conserved
protein
with
a
predicted
signal
peptide
and
two
potential
dibasic
convertase
cleavage
sites
.
In
mice
,
we
demonstrated
expression
of
the
corresponding
protein
exclusively
in
brain
tissue
using
an
anti-mouse
C
4
Orf
48
polyclonal
antibody
.
Detailed
RNA
in
situ
hybridization
experiments
revealed
expression
of
C
4
Orf
48
in
different
zones
during
cortical
and
cerebellar
development
,
as
well
as
in
almost
all
cortical
and
subcortical
regions
of
the
adult
mouse
brain
.
Based
on
the
present
data
,
we
propose
that
C
4
Orf
48
probably
encodes
a
novel
neuropeptide
,
which
,
if
hemizygously
deleted
,
may
be
involved
in
the
observed
intellectual
and
fine
motor
disabilities
and
thus
in
the
overall
neurological
aspects
of
Wolf-
Hirschhorn
syndrome
.
Diseases
Validation
Diseases presenting
"brain tissue"
symptom
22q11.2 deletion syndrome
alexander disease
cadasil
classical phenylketonuria
congenital toxoplasmosis
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
phenylketonuria
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
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