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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
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
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