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Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
caused
by
mutations
in
the
NOTCH
3
gene
on
chromosome
19
.
Previous
studies
showed
that
NOTCH
3
contains
mutational
hotspots
that
can
vary
among
individuals
of
different
ethnic
backgrounds
.
In
this
study
,
we
investigated
the
spectrum
of
NOTCH
3
mutations
in
Korean
patients
with
CADASIL
.
We
retrospectively
analyzed
156
patients
who
underwent
NOTCH
3
gene
testing
for
molecular
diagnosis
of
CADASIL
using
Sanger
sequencing
with
a
tiered
approach
.
First
,
we
screened
previously
reported
mutational
hotspots
(
exons
2
-
6
,
8
,
11
,
18
,
19
,
and
22
)
.
If
no
mutation
was
detected
and
samples
were
available
,
we
extended
our
analysis
to
additional
exons
(
7
,
9
,
10
,
14
,
15
,
20
,
21
,
23
,
and
25
)
.
In
45
of
156
patients
(
28
.
8
%
)
,
29
mutations
and
16
novel
variants
of
unknown
significance
(
VUS
)
were
identified
.
The
p
.
R
544
C
mutation
in
exon
11
of
NOTCH
3
was
the
most
frequently
observed
mutation
(
n
=
8
)
,
followed
by
p
.
R
75
P
in
exon
3
(
n
=
7
)
,
p
.
R
332
C
in
exon
6
(
n
=
3
)
,
p
.
R
54
C
in
exon
2
(
n
=
2
)
,
and
p
.
R
90
C
in
exon
3
(
n
=
2
)
.
Among
the
VUS
,
p
.
R
1175
W
in
exon
22
,
p
.
S
414
C
in
exon
8
,
and
p
.
N
1207
S
in
exon
22
were
found
in
5
,
3
,
and
2
patients
,
respectively
.
Other
mutations
and
VUS
were
observed
in
1
patient
each
.
Although
this
was
not
a
prospective
,
nationwide
cohort
study
,
the
results
above
suggested
that
the
spectrum
of
NOTCH
3
mutations
might
be
different
in
Koreans
than
in
individuals
of
Caucasian
ethnicity
.
Therefore
,
further
analysis
of
Koreans
with
CADASIL
might
be
necessary
to
implement
a
Korean
-
specific
mutation
screening
paradigm
.
Diseases
Validation
Diseases presenting
"different ethnic backgrounds"
symptom
cadasil
cohen syndrome
proteus syndrome
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