Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
[cowden syndrome]
PTEN
gene
(
phosphatase
and
tensin
homolog
deleted
on
chromosome
ten
,
MIM
601628
)
is
a
tumor
suppressor
gene
implicated
in
PTEN
hamartoma
tumor
syndromes
(
PHTS
)
including
Cowden
syndrome
,
Bannayan-
Riley
-
Ruvalcaba
syndrome
and
Proteus-like
syndrome
.
PTEN
mutations
have
been
more
recently
reported
in
children
with
macrocephaly
and
autism
spectrum
disorders
or
mental
retardation
,
without
other
symptoms
of
PHTS
.
Although
tumor
risk
has
not
been
evaluated
in
these
patients
and
their
relatives
,
the
same
surveillance
as
for
Cowden
syndrome
is
usually
proposed
.
We
report
a
family
including
patients
carrying
a
novel
PTEN
mutation
and
presenting
with
a
mild
phenotype
consisting
of
macrocephaly
,
hypotonia
during
the
first
year
of
life
and
mild
learning
disabilities
,
without
autistic
features
.
None
of
these
patients
exhibited
PTHS-related
symptoms
such
as
tumors
,
lipomas
,
vascular
malformations
or
pigmented
macules
of
the
glans
penis
.
This
report
raises
the
question
of
extending
the
indications
of
PTEN
mutation
screening
to
familial
macrocephaly
with
learning
disabilities
.
Detection
of
a
mutation
in
this
family
led
to
difficult
questions
about
surveillance
,
genetic
counseling
and
familial
information
since
the
mother
declined
tumor
screening
and
disclosure
of
genetic
risk
information
to
at
-risk
relatives
.
Diseases
Validation
Diseases presenting
"vascular malformations or pigmented macules of the glans penis"
symptom
cowden syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom