Rare Diseases Symptoms Automatic Extraction
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PTEN mosaicism with features of Cowden syndrome.
[cowden syndrome]
We
present
the
first
known
case
of
somatic
PTEN
mosaicism
causing
features
of
Cowden
syndrome
(
CS
)
and
inheritance
in
the
subsequent
generation
.
A
20
-
year
-old
woman
presented
for
genetics
evaluation
with
multiple
ganglioneuromas
of
the
colon
.
On
examination
,
she
was
found
to
have
a
thyroid
goiter
,
macrocephaly
,
and
tongue
papules
,
all
suggestive
of
CS
.
However
,
her
reported
family
history
was
not
suspicious
for
CS
.
A
deleterious
PTEN
mutation
was
identified
in
blood
lymphocytes
,
966
A
>
G
,
967
delA
.
Genetic
testing
was
recommended
for
her
parents
.
Her
48
-
year
-old
father
was
referred
for
evaluation
and
was
found
to
have
macrocephaly
and
a
history
of
Hashimoto
's
thyroiditis
,
but
no
other
features
of
CS
.
Site-
specific
genetic
testing
carried
out
on
blood
lymphocytes
showed
mosaicism
for
the
same
PTEN
mutation
identified
in
his
daughter
.
Identifying
PTEN
mosaicism
in
the
proband
's
father
had
significant
implications
for
the
risk
assessment
/
genetic
testing
plan
for
the
rest
of
his
family
.
His
result
also
provides
impetus
for
somatic
mosaicism
in
a
parent
to
be
considered
when
a
de
novo
PTEN
mutation
is
suspected
.