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The clinical consequences of hemizygosity across 2 MB of 10q23 are restricted to Cowden syndrome.
[cowden syndrome]
Cowden
syndrome
is
caused
by
germline
mutations
in
PTEN
and
clinically
characterized
by
hamartomas
,
macrocephaly
,
classic
dermatologic
stigmata
,
and
an
estimated
85
%
lifetime
risk
of
female
breast
cancer
.
A
young
woman
with
macrocephaly
,
tricholemmomas
,
AV
malformations
,
and
mammary
papillomatosis
was
found
to
be
hemizygous
for
PTEN
in
her
germline
DNA
.
Using
MLPA
,
comparative
genomic
hybridization
,
and
DNA
sequencing
,
we
identified
a
2
-
Mb
deletion
in
chromosome
10
spanning
344
-
kb
centromeric
and
1
.
7
-
Mb
telomeric
of
PTEN
.
Her
father
who
has
a
clinical
history
including
macrocephaly
,
Hashimoto
's
thyroiditis
,
colonic
polyposis
,
acral
keratoses
,
and
goiter
was
also
found
to
have
the
same
deletion
.
In
benign
breast
tissue
from
the
hemizygous
female
,
PTEN
protein
expression
was
significantly
reduced
in
luminal
and
stromal
cells
but
present
in
the
myoepithelium
.
Compared
with
a
typical
papilloma
of
the
breast
which
had
intense
cytoplasmic
PTEN
staining
,
the
majority
of
the
patient
's
papilloma
had
significantly
decreased
PTEN
expression
while
some
cells
had
mislocalized
perinuclear
PTEN
expression
.
In
addition
to
PTEN
,
22
other
protein-coding
genes
were
deleted
including
two
predicted
haploinsufficient
genes
and
five
additional
genes
that
have
previously
been
associated
with
hereditary
predispositions
to
certain
diseases
.
However
,
because
all
significant
clinical
features
of
the
proband
and
her
father
are
common
to
patients
with
genetic
alterations
in
PTEN
,
the
other
22
hemizygous
protein-coding
genes
appear
to
be
haplosufficient
.
Diseases
Validation
Diseases presenting
"hereditary predispositions to certain diseases"
symptom
cowden syndrome
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