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Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
OMIM
173650
)
is
an
autosomal
recessive
condition
characterized
by
skin
blistering
,
skin
atrophy
,
photosensitivity
,
colonic
inflammation
and
mucosal
stenosis
.
Fewer
than
100
cases
have
been
described
in
the
literature
.
First
reported
in
1954
,
the
molecular
basis
of
Kindler
syndrome
was
elucidated
in
2003
with
the
discovery
of
FERMT
1
(
KIND
1
)
loss
-of-function
mutations
in
affected
individuals
.
The
FERMT
1
gene
encodes
kindlin-
1
(
also
known
as
fermitin
family
homologue
1
)
,
a
77
kDa
protein
that
localizes
at
focal
adhesions
,
where
it
plays
an
important
role
in
integrin
signalling
.
In
the
current
study
,
we
describe
five
novel
and
three
recurrent
loss
-of-function
FERMT
1
mutations
in
eight
individuals
with
Kindler
syndrome
,
and
provide
an
overview
of
genotype-phenotype
correlation
in
this
disorder
.
Diseases
Validation
Diseases presenting
"where it plays an important role in integrin signalling"
symptom
kindler syndrome
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