Rare Diseases Symptoms Automatic Extraction
Home
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
"transient ischemic attacks"
symptom
cadasil
fabry disease
sneddon syndrome
This symptom has already been validated