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A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
[dystrophic epidermolysis bullosa]
Dystrophic
epidermolysis
bullosa
(
DEB
)
is
an
inherited
skin
fragility
disorder
that
presents
various
clinical
manifestations
.
DEB
is
characterized
by
separation
of
sublamina
densa
tissue
and
abnormalities
in
the
anchoring
fibrils
that
result
from
mutations
in
COL
7
A
1
and
subsequent
defects
in
type
VII
collagen
.
A
16
-
month
-old
boy
was
diagnosed
with
Hallopeau-
Siemens
recessive
DEB
on
the
basis
of
typical
skin
lesions
composed
of
multiple
blisters
with
moderately
healed
erosions
,
scarring
on
trauma-exposed
body
sites
,
including
hands
and
feet
,
pseudosyndactyly
and
flexion
contractures
of
the
toes
,
and
severely
dystrophic
nails
on
the
right
hand
.
Genomic
DNA
from
the
patient
and
parents
were
subjected
to
direct
sequencing
for
the
COL
7
A
1
gene
.
Two
heterozygous
mutations
were
detected
in
the
affected
child
;
one
novel
mutation
designated
c
.
4232
delC
in
exon
38
and
a
single
-base
substitution
(
c
.
6573
+
1
G
>
C
)
in
intron
81
.
Deletion
of
a
single
cytosine
at
codon
1411
within
exon
38
had
produced
a
frameshift
mutation
that
created
a
stop
codon
at
codon
1427
(
p
.
Pro
1411
Leufs
*
17
)
.
This
intronic
base
substitution
had
led
to
aberrant
splicing
and
a
premature
termination
codon
.
This
is
a
novel
mutation
of
COL
7
A
1
associated
with
DEB
in
a
Korean
patient
,
adding
to
the
range
of
COL
7
A
1
mutations
related
to
DEB
.
Diseases
Validation
Diseases presenting
"adding to the range of col7a1 mutations related to deb"
symptom
dystrophic epidermolysis bullosa
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