Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
[Identification of a novel NOTCH3 mutation in a family featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].
[cadasil]
To
analyze
potential
mutations
of
NOTCH
3
gene
in
a
Chinese
family
featuring
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarct
and
leucoencephalopathy
(
CADASIL
)
in
order
to
facilitate
genetic
counseling
and
prenatal
diagnosis
.
The
proband
and
related
family
members
and
100
healthy
controls
were
recruited
.
The
NOTCH
3
gene
was
screened
for
mutations
by
polymerase
chain
reaction
and
direct
DNA
sequencing
.
PolyPhen-
2
and
SIFT
software
were
used
to
predict
the
protein
function
.
The
proband
and
two
affected
individuals
from
the
family
were
adult-onset
,
with
main
clinical
manifestations
including
recurrent
transient
ischemic
attacks
and
(
or
)
strokes
,
cognitive
impairment
,
memory
decline
,
and
depression
.
MRI
findings
suggested
multiple
cerebral
infarcts
and
severe
leukoencephalopathy
.
A
novel
heterozygous
missense
mutation
c
.
3043
T
>
A
(
p
.
Cys
1015
S
er
)
located
in
exon
19
of
NOTCH
3
gene
was
identified
not
only
in
the
proband
and
two
patients
,
but
also
in
an
asymptomatic
relative
from
the
family
.
The
same
mutation
was
detected
in
none
of
the
100
unrelated
healthy
controls
.
Function
analysis
suggested
that
this
mutation
can
severely
affect
the
functions
of
this
protein
.
Multiple
sequence
alignment
revealed
that
the
mutation
site
was
extremely
conserved
in
various
species
.
A
novel
heterozygous
Cys
1015
S
er
mutations
in
exon
19
of
the
NOTCH
3
gene
probably
underlies
the
CADASIL
in
this
family
.
Diseases
Validation
Diseases presenting
"cognitive impairment"
symptom
22q11.2 deletion syndrome
cadasil
canavan disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
locked-in syndrome
phenylketonuria
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
This symptom has already been validated