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Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
a
mechanobullous
genodermatosis
that
may
be
caused
by
mutations
in
the
genes
KRT
5
and
KRT
14
encoding
the
basal
epidermal
keratins
5
(
K
5
)
and
14
(
K
14
)
.
Three
main
clinical
subtypes
of
EBS
exist
,
differing
in
onset
,
distribution
and
severity
of
skin
blistering
.
Previous
reports
of
KRT
5
and
KRT
14
mutations
suggest
a
correlation
between
the
location
of
the
mutation
and
the
severity
of
the
associated
EBS
phenotype
.
The
prevalence
of
KRT
5
/
KRT
14
mutations
and
the
genotype-phenotype
correlation
in
the
largest
tissue-confirmed
EBS
population
is
investigated
.
K
RT
5
and
KRT
14
genomic
DNA
and
cDNA
sequences
of
76
clinically
well-defined
unrelated
EBS
probands
were
amplified
and
then
subjected
to
direct
sequencing
and
product
length
analysis
.
Immunofluorescence
microscopy
on
patients
'
skin
biopsies
with
antibodies
against
K
5
and
K
14
was
performed
to
study
protein
expression
.
In
57
of
76
(
75
%
)
probands
41
different
KRT
5
and
KRT
14
mutations
were
identified
,
of
which
12
were
novel
.
Mutations
affecting
the
highly
conserved
helix
boundary
motifs
of
the
rod
domains
of
K
5
and
K
14
,
and
the
K
14
helix
initiation
motif
in
particular
,
were
associated
with
the
severest
,
EBS
Dowling-
Meara
,
phenotype
.
In
21
EBS
probands
(
37
%
)
the
mutation
was
de
novo
.
In
19
probands
(
25
%
)
KRT
5
or
KRT
14
mutations
were
excluded
.
The
phenotype-genotype
correlation
observed
in
this
large
EBS
population
underscores
the
importance
of
helix
boundary
motifs
for
keratin
assembly
.
Only
three
-
quarters
of
biopsy-confirmed
EBS
probands
have
KRT
5
or
KRT
14
mutations
,
indicating
genetic
heterogeneity
in
EBS
.
Alternative
gene
candidates
are
discussed
.
Diseases
Validation
Diseases presenting
"highly conserved helix boundary motifs of the rod domains"
symptom
epidermolysis bullosa simplex
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