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A novel PTEN gene promoter mutation and untypical Cowden syndrome.
[cowden syndrome]
Cowden
syndrome
(
CS
)
,
an
autosomal
dominant
disorder
,
is
one
of
a
spectrum
of
clinical
disorders
that
have
been
linked
to
germline
mutations
in
the
phosphatase
and
tensin
homolog
(
PTEN
)
gene
.
Although
70
-
80
%
of
patients
with
CS
have
an
identifiable
germline
PTEN
mutation
,
the
clinical
diagnosis
presents
many
challenges
because
of
the
phenotypic
and
genotypic
variations
.
In
the
present
study
,
we
sequenced
the
exons
and
the
promoter
of
PTEN
gene
,
mutations
and
variations
in
the
promoter
and
exons
were
identified
,
and
a
PTEN
protein
expression
negative
region
was
determined
by
immunohistochemistry
(
IHC
)
.
In
conclusion
,
a
novel
promoter
mutation
we
found
in
PTEN
gene
may
turn
off
PTEN
protein
expression
occasionally
,
leading
to
the
disorder
of
PTEN
and
untypical
CS
manifestations
.
Diseases
Validation
Diseases presenting
"mutations in the phosphatase"
symptom
cowden syndrome
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