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Unusual molecular findings in Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
rare
inherited
skin
disorder
with
blistering
and
poikiloderma
as
its
main
clinical
features
.
It
is
caused
by
loss
-of-function
mutations
in
the
C
2
0
orf
42
(
KIND
1
)
gene
which
encodes
kindlin-
1
,
an
actin
cytoskeleton-
focal
contact-associated
protein
which
is
predominantly
expressed
in
keratinocytes
.
We
investigated
the
molecular
basis
of
KS
in
a
16
-
year
-old
Indian
boy
who
had
additional
clinical
findings
,
including
scleroatrophic
changes
of
the
hands
and
feet
,
pseudoainhum
and
early
onset
of
squamous
cell
carcinoma
on
his
foot
.
Immunostaining
for
kindlin-
1
in
the
patient
's
skin
was
completely
absent
and
sequencing
of
C
2
0
orf
42
(
KIND
1
)
genomic
DNA
showed
a
homozygous
splice-site
mutation
at
the
-
6
position
,
IVS
9
-
6
T
--
>
A
.
Amplification
and
sequencing
of
cDNA
from
the
skin
revealed
aberrant
splicing
with
either
deletion
of
exon
10
or
deletion
of
exons
9
,
10
and
11
,
both
of
which
involve
loss
of
the
pleckstrin
homology
domain
of
kindlin-
1
that
is
thought
to
play
a
role
in
cytoskeletal
attachment
and
integrin-mediated
cell
signalling
.
Pathogenic
splice-site
mutations
at
the
-
6
position
are
unusual
and
have
rarely
been
reported
for
any
genetic
disorder
.
Collectively
,
these
findings
extend
the
spectrum
of
clinical
and
molecular
abnormalities
in
this
rare
genodermatosis
.
Diseases
Validation
Diseases presenting
"including scleroatrophic changes of the hands and feet"
symptom
kindler syndrome
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