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Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Plectin
is
a
cytoskeletal
linker
protein
which
has
a
long
central
rod
and
N-
and
C-
terminal
globular
domains
.
Mutations
in
the
gene
encoding
plectin
(
PLEC
)
cause
two
distinct
autosomal
recessive
subtypes
of
epidermolysis
bullosa
:
EB
simplex
(
EBS
)
with
muscular
dystrophy
(
EBS-
MD
)
,
and
EBS
with
pyloric
atresia
(
EBS-
PA
)
.
Previous
studies
have
demonstrated
that
loss
of
full-length
plectin
with
residual
expression
of
the
rodless
isoform
leads
to
EBS-
MD
,
whereas
complete
loss
or
marked
attenuation
of
expression
of
full-length
and
rodless
plectin
underlies
the
more
severe
EBS-
PA
phenotype
.
However
,
muscular
dystrophy
has
never
been
identified
in
EBS-
PA
,
not
even
in
the
severe
form
of
the
disease
.
Here
,
we
report
the
first
case
of
EBS
associated
with
both
pyloric
atresia
and
muscular
dystrophy
.
Both
of
the
premature
termination
codon-causing
mutations
of
the
proband
are
located
within
exon
32
,
the
last
exon
of
PLEC
.
Immunofluorescence
and
immunoblot
analysis
of
skin
samples
and
cultured
fibroblasts
from
the
proband
revealed
truncated
plectin
protein
expression
in
low
amounts
.
This
study
demonstrates
that
plectin
deficiency
can
indeed
lead
to
both
muscular
dystrophy
and
pyloric
atresia
in
an
individual
EBS
patient
.
Diseases
Validation
Diseases presenting
"cultured fibroblasts from the proband revealed truncated plectin protein expression in low amounts"
symptom
epidermolysis bullosa simplex
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