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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
"skin fibroblasts"
symptom
child syndrome
cowden syndrome
cystinuria
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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