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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
.
