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Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.
[cadasil]
Some
missense
mutations
and
small
deletions
in
the
NOTCH
3
gene
,
not
involving
cysteine
residues
,
have
been
described
in
patients
considered
to
be
affected
by
paucisymptomatic
CADASIL
.
However
,
the
significance
of
such
molecular
variants
is
still
unclear
.
We
describe
a
49
-
year
-old
woman
with
a
CADASIL
-like
phenotype
,
carrying
a
novel
cysteine-sparing
mutation
in
exon
29
of
the
NOTCH
3
gene
,
and
discuss
the
possible
pathogenetic
role
of
this
molecular
variant
.
Even
though
atypical
clinical
and
MRI
findings
make
a
diagnosis
of
CADASIL
unlikely
in
this
patient
,
our
report
nevertheless
underlines
the
intriguing
genotype-phenotype
relationship
in
NOTCH
3
mutations
and
the
importance
of
functional
investigation
to
ascertain
the
role
of
new
NOTCH
3
mutations
in
CADASIL
pathogenesis
.
Diseases
Validation
Diseases presenting
"possible pathogenetic role of this molecular variant"
symptom
cadasil
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