Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
a
group
of
hereditary
bullous
disorders
caused
by
mutations
in
the
keratin
genes
KRT
5
and
KRT
14
.
A
significant
genotype-phenotype
correlation
has
been
noted
in
previous
studies
of
EBS
.
In
order
to
identify
additional
EBS
mutations
and
elucidate
the
genotype-phenotype
correlations
in
Korean
EBS
patients
,
we
performed
the
first
large
scale
mutational
analysis
of
EBS
patients
of
Korean
origin
.
We
investigated
fifteen
Korean
EBS
patients
by
performing
a
sequence
analysis
of
the
entire
coding
sequences
of
KRT
5
and
KRT
14
.
We
identified
six
novel
mutations
,
four
within
KRT
5
(
p
.
V
143
F
,
p
.
R
265
P
,
p
.
C
479
X
and
p
.
Asn
177
del
)
,
and
two
within
KRT
14
(
p
.
R
125
L
and
p
.
L
401
P
)
.
In
all
,
13
missense
,
1
nonsense
,
and
1
small
deletion
mutation
were
found
.
Five
mutations
in
Dowling-
Meara
type
(
K
14
-
p
.
R
125
H
,
K
14
-
p
.
R
125
L
,
K
5
-
E
477
K
,
K
5
-
p
.
C
479
X
and
K
5
-
p
.
Asn
177
del
)
were
located
in
the
highly
conserved
ends
of
the
alpha-helical
rod
domain
,
the
helix
initiation
(
HIP
)
,
or
helix
termination
(
HTP
)
peptides
of
KRT
5
and
KRT
14
.
Further
,
seven
and
three
mutations
were
identified
in
EBS
-generalized
type
and
EBS
-
localized
type
,
respectively
.
The
positions
of
the
mutations
in
both
subtypes
were
more
widely
distributed
within
the
rod
domains
and
in
the
L
12
linker
domains
of
both
keratin
genes
.
This
study
should
provide
useful
data
and
enhance
our
understanding
of
the
EBS
genotype-phenotype
relationship
.
The
genotype-phenotype
correlation
in
Korean
EBS
patients
was
similar
to
previous
studies
performed
in
other
ethnic
groups
.
Lastly
,
our
results
confirmed
that
the
mutational
location
in
KRT
5
or
KRT
14
is
the
most
important
factor
in
determining
the
phenotype
severity
.
Diseases
Validation
Diseases presenting
"significant genotype-phenotype correlation"
symptom
epidermolysis bullosa simplex
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom