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Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Basal
epidermolysis
bullosa
simplex
(
EBS
)
is
a
group
of
blistering
genodermatoses
mostly
caused
by
mutations
in
the
keratin
genes
,
KRT
5
and
KRT
14
.
Recessive
mutations
represent
about
5
%
of
all
EBS
mutations
,
being
common
and
specific
in
populations
with
high
consanguinity
,
where
affected
patients
show
severe
phenotypes
.
To
accomplish
the
first
mutational
analysis
in
patients
of
Spanish
origin
with
EBS
and
to
delineate
a
comprehensive
genotype-phenotype
correlation
.
Twenty
-
one
EBS
families
were
analysed
.
Immunofluorescence
mapping
at
the
dermoepidermal
junction
level
was
performed
on
skin
biopsies
from
patients
.
Mutation
screening
of
the
entire
coding
sequences
of
KRT
5
and
KRT
14
in
genomic
DNA
was
assessed
by
polymerase
chain
reaction
and
direct
sequencing
.
K
RT
5
or
KRT
14
causative
mutations
were
identified
in
18
of
the
21
EBS
families
.
A
total
of
14
different
mutations
were
disclosed
,
of
which
12
were
dominant
missense
mutations
and
two
truncating
recessive
mutations
.
Five
of
the
14
mutations
were
novel
including
three
dominant
in
KRT
5
(
p
.
V
186
E
,
p
.
T
321
P
and
p
.
A
428
T
)
and
two
recessive
in
KRT
14
(
p
.
K
116
X
and
p
.
K
250
RfsX
8
)
.
The
two
patients
with
EBS
carrying
homozygous
recessive
mutations
were
affected
by
severe
phenotypes
and
belonged
to
consanguineous
families
.
All
five
families
with
the
EBS
Dowling-
Meara
subtype
carried
recurrent
mutations
affecting
the
highly
conserved
ends
of
the
α-helical
rod
domain
of
K
5
and
K
14
.
The
seven
mutations
associated
with
the
localized
EBS
subtype
were
widely
distributed
along
the
KRT
5
and
KRT
14
genes
.
Two
families
with
mottled
pigmentation
carried
the
P
25
L
mutation
in
KRT
5
,
commonly
associated
with
this
subtype
.
This
study
further
confirms
the
genotype-phenotype
correlation
established
for
EBS
in
other
ethnic
groups
,
and
is
the
first
in
a
Mediterranean
country
(
excluding
Israel
)
.
This
study
adds
two
novel
recessive
mutations
to
the
worldwide
record
to
date
,
which
includes
a
total
of
14
mutations
.
As
in
previous
reports
,
the
recessive
mutations
resulted
in
a
lack
of
keratin
K
14
,
giving
rise
to
a
generalized
and
severe
presentation
.
Diseases
Validation
Diseases presenting
"dominant missense mutations"
symptom
epidermolysis bullosa simplex
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