Rare Diseases Symptoms Automatic Extraction
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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
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated