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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
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated