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New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.
[kindler syndrome]
Kindler
syndrome
(
KS
)
is
a
rare
autosomal
recessive
skin
disorder
,
which
was
recently
reclassified
as
a
subtype
of
epidermolysis
bullosa
.
Despite
the
fact
that
loss
-of-function
mutations
in
the
FERMT
1
gene
,
encoding
kindlin-
1
,
have
been
shown
to
cause
the
syndrome
in
numerous
patients
,
a
small
number
of
typical
cases
of
KS
in
which
FERMT
1
mutations
could
not
be
identified
has
raised
the
possibility
that
the
disorder
may
be
genetically
heterogeneous
.
To
assess
two
highly
consanguineous
families
with
clinical
characteristics
of
KS
.
In
the
first
family
,
a
hitherto
unreported
deletion
(
c
.
137
-
140
delTAGT
)
in
FERMT
1
was
detected
,
which
is
predicted
to
lead
to
premature
termination
of
translation
.
However
,
direct
sequencing
of
the
coding
region
of
FERMT
1
failed
to
disclose
any
pathogenic
change
in
the
second
family
.
To
confirm
the
possibility
that
the
disease
in
this
family
may
be
due
to
a
mutation
in
another
gene
,
we
used
homozygosity
mapping
,
and
found
that
all
affected
family
members
share
a
segment
of
homozygosity
on
20
p
12
.
3
,
spanning
the
FERMT
1
gene
.
Accordingly
,
a
large
and
highly
unusual
deletion
(
g
.
-
711
-
1241
del
)
spanning
the
putative
FERMT
1
promoter
sequence
and
the
first
noncoding
exon
of
the
gene
was
found
to
cosegregate
with
the
disease
phenotype
in
this
family
,
and
to
prevent
transcription
of
the
gene
,
as
attested
by
the
lack
of
FERMT
1
message
in
the
skin
of
a
patient
.
The
present
data
provide
evidence
in
support
of
genetic
homogeneity
in
KS
.
Diseases
Validation
Diseases presenting
"encoding kindlin-1"
symptom
kindler syndrome
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