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Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.
[kindler syndrome]
Spontaneous
gene
repair
,
also
called
revertant
mosaicism
,
has
been
documented
in
several
genetic
disorders
involving
organs
that
undergo
self-regeneration
,
including
the
skin
.
Genetic
reversion
may
occur
through
different
mechanisms
,
and
in
a
single
individual
,
the
mutation
can
be
repaired
in
various
ways
.
Here
we
describe
a
disseminated
pattern
of
revertant
mosaicism
observed
in
6
patients
with
Kindler
syndrome
(
KS
)
,
a
genodermatosis
caused
by
loss
of
kindlin-
1
(
encoded
by
FERMT
1
)
and
clinically
characterized
by
patchy
skin
pigmentation
and
atrophy
.
All
patients
presented
duplication
mutations
(
c
.
456
dupA
and
c
.
676
dupC
)
in
FERMT
1
,
and
slipped
mispairing
in
direct
nucleotide
repeats
was
identified
as
the
reversion
mechanism
in
all
investigated
revertant
skin
spots
.
The
sequence
around
the
mutations
demonstrated
high
propensity
to
mutations
,
favoring
both
microinsertions
and
microdeletions
.
Additionally
,
in
some
revertant
patches
,
mitotic
recombination
generated
areas
with
homozygous
normal
keratinocytes
.
Restoration
of
kindlin-
1
expression
led
to
clinically
and
structurally
normal
skin
.
Since
loss
of
kindlin-
1
severely
impairs
keratinocyte
proliferation
,
we
predict
that
revertant
cells
have
a
selective
advantage
that
allows
their
clonal
expansion
and
,
consequently
,
the
improvement
of
the
skin
condition
.
Diseases
Validation
Diseases presenting
"skin condition"
symptom
aniridia
cushing syndrome
epidermolysis bullosa simplex
harlequin ichthyosis
kindler syndrome
lamellar ichthyosis
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