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DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
[epidermolysis bullosa simplex]
Mutations
in
the
plectin
gene
(
PLEC
)
generally
lead
to
epidermolysis
bullosa
simplex
(
EBS
)
associated
with
muscular
dystrophy
.
It
has
been
recently
demonstrated
that
PLEC
mutations
can
also
cause
a
different
clinical
subtype
,
EBS
associated
with
pyloric
atresia
(
EBS-
PA
)
,
which
shows
early
lethality
.
Prenatal
diagnosis
(
PND
)
of
EBS-
PA
using
mutation
screening
of
PLEC
has
not
been
described
.
This
study
aimed
to
perform
DNA-based
PND
for
an
EBS-
PA
family
.
T
he
EBS-
PA
proband
was
compound-heterozygous
for
a
paternal
c
.
1350
G
>
A
splice-site
mutation
and
a
maternal
p
.
Q
305
X
nonsense
mutation
.
Genomic
DNA
was
obtained
from
amniocytes
taken
from
an
at
-risk
fetus
of
the
proband
's
family
.
Direct
sequencing
and
restriction
enzyme
digestion
of
polymerase
chain
reaction
products
from
the
genomic
DNA
were
performed
.
Mutational
analysis
showed
that
the
fetus
harbored
both
pathogenic
mutations
,
suggesting
that
the
fetus
was
a
compound-heterozygote
and
therefore
affected
with
EBS-
PA
.
The
skin
sample
obtained
by
autopsy
from
the
abortus
confirmed
the
absence
of
plectin
expression
at
the
dermal-epidermal
junction
.
T
his
is
the
first
successful
DNA-based
PND
for
an
EBA-
PA
family
.
Diseases
Validation
Diseases presenting
"early lethality"
symptom
canavan disease
epidermolysis bullosa simplex
junctional epidermolysis bullosa
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