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Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.
[cadasil]
The
cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leucoencephalopathy
(
CADASIL
)
is
because
of
NOTCH
3
mutations
affecting
the
number
of
cysteine
residues
.
In
this
view
,
the
role
of
atypical
NOTCH
3
mutations
is
still
debated
.
Therefore
,
we
investigated
a
family
carrying
a
NOTCH
3
nonsense
mutation
,
with
dominantly
inherited
recurrent
cerebrovascular
disorders
.
Among
7
family
members
,
4
received
a
clinical
diagnosis
of
CADASIL
.
A
heterozygous
truncating
mutation
in
exon
3
(
c
.
307
C
>
T
,
p
.
Arg
103
X
)
was
found
in
the
4
clinically
affected
subjects
and
in
one
27
-
year
old
lady
,
only
complaining
of
migraine
with
aura
.
Magnetic
resonance
imaging
scans
found
typical
signs
of
small
-vessel
disease
in
the
4
affected
subjects
,
supporting
the
clinical
diagnosis
.
Skin
biopsies
did
not
show
the
typical
granular
osmiophilic
material
,
but
only
nonspecific
signs
of
vascular
damage
,
resembling
those
previously
described
in
Notch
3
knockout
mice
.
Interestingly
,
messenger
RNA
(
mRNA
)
analysis
supports
the
hypothesis
of
an
atypical
NOTCH
3
mutation
,
suggesting
a
nonsense-mediated
mRNA
decay
.
In
conclusion
,
the
present
study
broadens
the
spectrum
of
CADASIL
mutations
,
and
,
therefore
,
opens
new
insights
about
Notch
3
signaling
.
Diseases
Validation
Diseases presenting
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
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