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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
.