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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
"thus in the overall neurological aspects of wolf-hirschhorn syndrome"
symptom
wolf-hirschhorn syndrome
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