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One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
a
group
of
inherited
skin
diseases
,
characterized
by
the
formation
of
intraepidermal
blisters
.
We
performed
genetic
analysis
of
the
keratin
5
(
KRT
5
)
gene
in
two
Chinese
pedigrees
.
One
novel
missense
mutation
was
identified
in
a
patient
with
sporadic
EBS
(
general
,
non-
Dowling-
Meara
)
.
Sequence
analysis
showed
a
heterozygous
T
>
A
transition
at
nucleotide
1730
of
KRT
5
,
changing
phenylalanine
(
Phe
)
to
tyrosine
(
Tyr
)
at
position
577
of
the
keratin
5
(
K
5
)
.
In
addition
,
two
recurrent
mutations
c
.
1649
delG
(
p
.
Gly
550
AlafsX
77
)
and
c
.
508
G
>
(
p
.
Glu
170
Lys
)
in
KRT
5
were
identified
in
Chinese
patients
with
mottled
pigmentation
EBS
and
localized
EBS
,
respectively
.
None
of
the
mutations
were
found
in
any
unaffected
family
members
or
in
an
additional
100
unrelated
control
samples
.
These
results
suggest
that
these
mutations
are
pathogenic
and
might
be
one
of
the
potential
causes
of
EBS
in
these
Chinese
patients
.
