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Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Revertant
mosaicism
has
been
reported
in
several
inherited
diseases
,
including
the
genetic
skin
fragility
disorder
epidermolysis
bullosa
(
EB
)
.
Here
,
we
describe
the
largest
cohort
of
seven
patients
with
revertant
mosaicism
and
dystrophic
EB
(
DEB
)
,
associated
with
mutations
in
the
COL
7
A
1
gene
,
and
determine
the
underlying
molecular
mechanisms
.
We
show
that
revertant
mosaicism
occurs
both
in
autosomal
dominantly
and
recessively
inherited
DEB
.
We
found
that
null
mutations
resulting
in
complete
loss
of
collagen
VII
and
severe
disease
,
as
well
as
missense
or
splice-site
mutations
associated
with
some
preserved
collagen
VII
function
and
a
milder
phenotype
,
were
corrected
by
revertant
mosaicism
.
The
mutation
,
subtype
,
and
severity
of
the
disease
are
thus
not
decisive
for
the
presence
of
revertant
mosaicism
.
Although
collagen
VII
is
synthesized
and
secreted
by
both
keratinocytes
and
fibroblasts
,
evidence
for
reversion
was
only
found
in
keratinocytes
.
The
reversion
mechanisms
included
back
mutations
/
mitotic
recombinations
in
70
%
of
the
cases
and
second
-site
mutations
affecting
splicing
in
30
%
.
We
conclude
that
revertant
mosaicism
is
more
common
than
previously
assumed
in
patients
with
DEB
,
and
our
findings
will
have
implications
for
future
therapeutic
strategies
using
the
patient
's
naturally
corrected
cells
as
a
source
for
cell-based
therapies
.
Diseases
Validation
Diseases presenting
"mutations in the col7a1 gene"
symptom
dystrophic epidermolysis bullosa
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