Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.
[cadasil]
CADASIL
is
the
most
prominent
inherited
form
of
vascular
dementia
.
The
main
clinical
features
include
migraine
with
aura
,
stroke
,
mood
disturbances
,
and
cognitive
decline
,
with
a
mid-life
(
30
s-
60
s
)
adult
onset
.
Genetic
testing
is
the
gold
standard
for
the
diagnosis
.
CADASIL
is
caused
mostly
by
missense
mutations
in
the
NOTCH
3
gene
,
invariably
involving
a
cysteine
residue
.
Only
a
couple
of
splice
site
mutations
have
been
reported
.
In
a
few
pathologically
defined
patients
,
genetic
mutations
remain
unidentified
.
We
report
a
family
with
late-onset
CADASIL
phenotype
carrying
a
novel
intronic
deletion
in
the
NOTCH
3
gene
(
c
.
341
-
26
_
24
delAAC
)
.
Transcript
analysis
revealed
a
splicing
alteration
,
with
the
complete
intron
3
retention
.
The
insertion
was
in
-frame
and
encoded
an
extra
25
amino
acids
,
including
1
cysteine
.
This
is
the
first
report
of
an
aberrant
splicing
event
of
the
NOTCH
3
gene
associated
with
a
mutation
far
away
from
the
canonical
splice
site
.
Our
finding
suggests
that
the
assays
used
to
evaluate
splicing
should
be
mandatory
in
the
diagnostic
setting
of
genetically
undefined
CADASIL
cases
.
Diseases
Validation
Diseases presenting
"dementia"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
phenylketonuria
sneddon syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated