Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
[epidermolysis bullosa simplex]
Mutations
in
the
plectin
gene
(
PLEC
1
)
cause
epidermolysis
bullosa
simplex
(
EBS
)
,
which
may
associate
with
muscular
dystrophy
(
EBS-
MD
)
or
pyloric
atresia
(
EBS-
PA
)
.
The
association
of
EBS
with
congenital
myasthenic
syndrome
(
CMS
)
is
also
suspected
to
result
from
PLEC
1
mutations
.
We
report
here
a
consanguineous
patient
with
EBS
and
CMS
for
whom
mutational
analysis
of
PLEC
1
revealed
a
homozygous
36
nucleotide
insertion
(
1506
_
1507
ins
36
)
that
results
in
a
reduced
expression
of
PLEC
1
mRNA
and
plectin
in
the
patient
muscle
.
In
addition
,
mutational
analysis
of
CHRNE
revealed
a
homozygous
1293
insG
,
which
is
a
well-known
low
-expressor
receptor
mutation
.
A
skin
biopsy
revealed
signs
of
EBS
,
and
an
anconeus
muscle
biopsy
showed
signs
of
a
mild
myopathy
.
Endplate
studies
showed
fragmentation
of
endplates
,
postsynaptic
simplification
,
and
large
collections
of
thread-like
mitochondria
.
Amplitudes
of
miniature
endplate
potentials
were
diminished
,
but
the
endplate
quantal
content
was
actually
increased
.
The
complex
phenotype
presented
here
results
from
mutations
in
two
separate
genes
.
While
the
skin
manifestations
are
because
of
the
PLEC
1
mutation
,
footprints
of
mutations
in
PLEC
1
and
CHRNE
are
present
at
the
neuromuscular
junction
of
the
patient
indicating
that
abnormalities
in
both
genes
contribute
to
the
CMS
phenotype
.
Diseases
Validation
Diseases presenting
"skin manifestations"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
familial mediterranean fever
harlequin ichthyosis
inclusion body myositis
kindler syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom