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C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.
[kindler syndrome]
The
Kindler
syndrome
(
KS
)
protein
kindlin-
1
is
a
member
of
a
protein
complex
that
links
cortical
actin
to
integrins
on
the
surface
of
basal
keratinocytes
.
Loss
of
kindlin-
1
leads
to
abnormalities
of
cell
adhesion
and
motility
,
and
to
skin
blistering
and
progressive
poikiloderma
as
clinical
symptoms
.
Here
we
investigated
a
severely
affected
patient
,
disclosed
the
mutation
that
caused
the
disease
and
delineated
its
biological
consequences
.
Mutation
screening
of
the
kindlin-
1
gene
,
KIND
1
(
now
called
FERMT
1
)
,
was
performed
with
polymerase
chain
reaction
(
PCR
)
amplification
of
all
exons
and
sequencing
.
Mutated
kindlin-
1
was
characterized
by
reverse
transcriptase
(
RT
)
-
PCR
and
immunoblotting
,
and
genotype-phenotype
correlations
were
analysed
using
immunohistochemical
staining
of
skin
biopsies
and
keratinocytes
from
the
patient
's
skin
.
Cell
adhesion
and
motility
were
assessed
with
functional
tests
.
We
disclosed
a
splice
site
mutation
in
the
first
position
of
intron
13
of
the
FERMT
1
gene
,
which
caused
skipping
of
exon
13
.
The
short
transcript
partially
escaped
nonsense-mediated
mRNA
decay
and
was
translated
into
a
truncated
protein
.
A
C-
terminally
truncated
kindlin-
1
in
keratinocytes
could
not
function
correctly
even
if
it
were
expressed
.
