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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing.
[cowden syndrome]
A
cohort
of
629
patients
with
suspected
Bannayan-
Riley
-
Ruvalcaba
syndrome
or
Cowden
syndrome
was
tested
for
mutations
in
the
PTEN
gene
.
Dosage
analysis
of
PTEN
was
carried
out
using
a
PTEN
-
specific
multiplex
ligation-dependent
probe
amplification
(
MLPA
)
kit
,
whereas
point
mutation
analysis
was
performed
using
direct
sequencing
.
Approximately
4
%
of
the
patients
from
the
testing
cohort
were
heterozygously
deleted
for
the
two
MLPA
probe-binding
sites
situated
in
intron
1
.
The
same
deletion
was
subsequently
seen
in
∼
3
%
of
220
normal
controls
,
and
in
patients
from
the
testing
cohort
with
a
causative
mutation
elsewhere
in
the
PTEN
gene
.
Sequencing
of
the
variant
revealed
an
899
bp
deletion
,
the
3
'
breakpoint
of
which
is
only
58
bp
from
the
start
of
exon
2
.
A
lthough
all
evidence
suggests
that
the
899
bp
deletion
is
a
polymorphism
with
no
clinical
effect
,
it
removes
the
binding
sites
of
almost
all
published
PTEN
exon
2
forward
primers
,
resulting
in
allelic
loss
during
PCR
.