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A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
A
novel
missense
mutation
(
p
.
Thr
198
S
er
)
in
the
1
A
helix
of
keratin
5
(
K
5
)
has
been
identified
in
a
four
-generation
family
with
a
history
of
the
localized
variant
of
epidermolysis
bullosa
simplex
(
EBS-loc
)
,
a
genetic
skin
fragility
disorder
caused
by
K
5
or
K
14
mutations
.
Genomic
DNA
was
isolated
from
blood
samples
of
patients
and
their
healthy
relatives
,
and
all
exons
of
the
genes
encoding
K
5
and
K
14
(
KRT
5
and
KRT
14
)
were
amplified
by
PCR
and
directly
sequenced
.
The
identified
mutation
was
confirmed
by
mismatch
allele-
specific
(
MM-AS
)
-
PCR
and
restriction
enzyme
digestion
with
RsaI
.
K
5
p
.
Thr
198
S
er
lies
at
the
C-
terminal
end
of
the
1
A
helical
domain
and
is
considered
to
be
outside
of
the
main
mutation
hotspot
region
.
This
is
the
first
reported
mutation
to
affect
position
30
of
the
1
A
helix
(
1
A
:
T
30
S
)
in
any
of
the
54
known
keratins
.
