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A random Abstract
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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
[cadasil]
CADASIL
is
an
autosomal
dominant
inherited
disease
,
characterized
by
mid-adult
onset
of
cerebrovascular
disease
and
dementia
.
CADASIL
is
caused
by
mutations
in
the
NOTCH
3
gene
,
which
encodes
the
NOTCH
3
protein
.
Pathogenic
mutations
in
CADASIL
are
highly
distinctive
in
the
sense
that
they
lead
to
the
loss
or
gain
of
a
cysteine
residue
in
1
of
the
34
EGFr
domains
of
the
NOTCH
3
protein
.
The
majority
are
missense
mutations
,
but
small
deletions
,
insertions
and
splice-site
mutations
have
been
reported
,
which
typically
also
lead
to
a
numerical
cysteine
alteration
.
Whether
numerical
cysteine-altering
mutations
are
a
rule
in
CADASIL
remains
subject
of
debate
,
as
there
are
reports
suggesting
pathogenicity
of
other
types
of
mutations
.
However
,
for
most
of
these
the
association
with
CADASIL
was
later
revoked
or
is
questionable
.
Here
,
we
discuss
and
provide
recommendations
for
the
interpretation
of
NOTCH
3
mutations
in
the
diagnosis
of
CADASIL
.