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Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
is
an
autosomal
recessive
genodermatosis
characterized
by
acral
blistering
in
neonates
and
diffuse
,
progressive
poikiloderma
in
later
life
.
Other
clinical
features
include
photosensitivity
,
premature
skin
ageing
and
severe
periodontal
disease
.
Two
groups
have
recently
shown
that
the
molecular
basis
of
Kindler
syndrome
is
loss
of
a
novel
epidermal
protein
,
kindlin-
1
,
encoded
by
the
gene
KIND
1
.
Two
additional
kindlin
proteins
,
kindlin-
2
and
kindlin-
3
,
have
also
been
described
.
Kindlin-
1
is
considered
to
be
a
component
in
the
linkage
of
the
actin
cytoskeleton
to
the
extracellular
matrix
and
as
such
is
proposed
to
have
both
structural
and
cell-signalling
functions
.
Kindler
syndrome
is
therefore
the
first
skin
fragility
syndrome
due
to
disruption
of
the
actin-extracellular
matrix
system
.
Diseases
Validation
Diseases presenting
"kindlin-1"
symptom
kindler syndrome
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