Rare Diseases Symptoms Automatic Extraction
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PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.
[cowden syndrome]
Lhermitte-
Duclos
disease
(
LDD
)
,
a
neurological
manifestation
of
Cowden
syndrome
(
CS
)
,
is
a
rare
and
benign
cerebellar
disorder
,
featured
by
dysplastic
cerebellar
ganglion
cells
which
replace
granular
and
Purkinje
cells
.
Phosphatase
and
Tensin
Homolog
(
PTEN
)
is
confirmed
as
the
susceptibility
gene
for
CS
which
represents
the
most
complex
features
and
is
not
easily
recognizable
.
We
reported
two
index
patients
with
LDD
diagnosed
either
in
an
isolated
form
or
coexist
with
CS
.
These
two
patients
displayed
progressive
though
comparable
phenotypes
and
were
found
to
carry
an
identical
PTEN
c
.
950
_
953
delTACT
mutation
in
either
germline
or
somatic
sources
of
DNA
,
respectively
.
Negative
or
moderate
expression
levels
of
PTEN
were
validated
by
immunohistochemistry
in
the
corresponding
patients
'
affected
tissues
.
This
study
has
revealed
a
novel
pathogenicity
locus
to
LDD
/
CS
as
a
candidate
for
early
molecular
diagnosis
.
In
addition
,
the
differential
PTEN
mutation
status
with
corresponding
LDD
phenotypes
suggests
a
potential
correlation
between
germline
or
somatic
mutation
and
coexisting
LDD
/
CS
or
isolated
LDD
,
respectively
.
Furthermore
,
our
data
could
lend
some
reference
to
the
underlying
molecular
mechanism
of
LDD
pathogenesis
in
the
future
.