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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
"c"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
coats disease
cohen syndrome
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
oligodontia
papillon-lefèvre syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
von hippel-lindau disease
x-linked adrenoleukodystrophy
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