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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
[cadasil]
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
caused
by
stereotyped
missense
mutations
in
NOTCH
3
.
Whether
these
mutations
lead
to
the
CADASIL
phenotype
via
a
neomorphic
effect
,
or
rather
by
a
hypomorphic
effect
,
is
subject
of
debate
.
Here
,
we
report
two
novel
NOTCH
3
mutations
,
both
leading
to
a
premature
stop
codon
with
predicted
loss
of
NOTCH
3
function
.
The
first
mutation
,
c
.
307
C
>
T
,
p
.
Arg
103
*
,
was
detected
in
two
brothers
aged
50
and
55
years
,
with
a
brain
MRI
and
skin
biopsy
incompatible
with
CADASIL
.
The
other
mutation
was
found
in
a
40
-
year
-old
CADASIL
patient
compound
heterozygous
for
a
pathogenic
NOTCH
3
mutation
(
c
.
2129
A
>
G
,
p
.
Tyr
710
Cys
)
and
an
intragenic
frameshift
deletion
.
The
deletion
was
inherited
from
his
father
,
who
did
not
have
the
skin
biopsy
abnormalities
seen
in
CADASIL
patients
.
These
individuals
with
rare
NOTCH
3
mutations
indicate
that
hypomorphic
NOTCH
3
alleles
do
not
cause
CADASIL
.
Diseases
Validation
Diseases presenting
"stereotyped missense mutations"
symptom
cadasil
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