Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing.
[cowden syndrome]
Mosaic
PTEN
mutations
are
not
well
described
in
Cowden
syndrome
.
We
report
a
40
-
year
-old
woman
with
a
clinical
diagnosis
of
Cowden
syndrome
including
Lhermitte-
Duclos
disease
,
who
had
a
mosaic
PTEN
mutation
detected
by
next
-generation
deep
sequencing
.
Complete
PTEN
gene
sequencing
by
the
Sanger
method
and
deletion
/
duplication
analysis
performed
on
DNA
extracted
from
blood
leukocytes
at
a
commercial
clinical
laboratory
did
not
identify
a
mutation
.
Because
of
high
suspicion
of
a
PTEN
mutation
,
we
repeated
testing
by
next
-generation
sequencing
using
the
ColoSeq
assay
,
which
sequences
the
entire
PTEN
locus
at
>
320
-
fold
average
coverage
.
ColoSeq
identified
a
frameshift
PTEN
mutation
(
c
.
767
_
768
delAG
)
in
1
.
7
%
of
sequencing
reads
from
peripheral
blood
leukocytes
(
21
/
1
,
184
reads
)
,
which
is
below
the
limit
of
detection
of
most
Sanger
sequencing
methods
.
The
mutation
was
detected
at
full
heterozygous
levels
in
skin
fibroblasts
and
a
cerebellar
tumor
,
and
at
approximately
the
25
%
level
in
colonic
and
endocervical
mucosa
,
confirming
somatic
mosaicism
.
Our
report
highlights
the
power
of
deep
next
-generation
sequencing
to
identify
mosaic
mutations
that
can
be
missed
by
traditional
less
sensitive
approaches
.
We
speculate
that
mosaic
PTEN
mutations
are
more
common
in
Cowden
syndrome
than
previously
described
.
Diseases
Validation
Diseases presenting
"blood leukocytes"
symptom
classical phenylketonuria
cowden syndrome
erythropoietic protoporphyria
kallmann syndrome
von hippel-lindau disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom