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Mutations in EXPH5 result in autosomal recessive inherited skin fragility.
[epidermolysis bullosa simplex]
Several
different
genes
have
been
implicated
in
the
pathophysiology
of
inherited
blistering
skin
diseases
.
Recently
,
autosomal
recessive
loss
-of-function
mutations
in
EXPH
5
(
encoding
exophilin-
5
,
also
known
as
Slac
2
-
b
,
a
protein
involved
in
intracellular
vesicle
transport
)
were
identified
in
a
new
mechanobullous
disease
resembling
a
form
of
epidermolysis
bullosa
simplex
(
EBS
)
.
Here
,
we
searched
for
mutations
in
EXPH
5
in
a
4
-
year
-old
white
boy
with
EBS
in
whom
initial
Sanger
sequencing
of
known
genes
implicated
in
intraepidermal
skin
fragility
failed
to
identify
pathogenic
mutations
.
Transmission
electron
microscopy
of
rubbed
nonlesional
patient
skin
revealed
disruption
of
keratinocytes
in
the
lower
epidermis
with
cytolysis
and
acantholysis
,
keratin
filament
clumping
and
prominent
perinuclear
cytoplasmic
vesicles
,
and
provided
the
clue
to
the
candidate
gene
pathology
.
Sanger
sequencing
of
genomic
DNA
showed
compound
heterozygosity
for
two
new
mutations
in
EXPH
5
,
c
.
1947
dupC
(
p
.
Pro
649
fsPro
*
11
)
and
c
.
2249
C
>
A
(
p
.
Ser
750
*
)
.
Immunofluorescence
microscopy
of
patient
skin
showed
a
complete
absence
of
exophilin-
5
labelling
.
This
case
represents
the
third
pedigree
with
EXPH
5
mutations
resulting
in
inherited
skin
fragility
.
The
clinical
and
molecular
data
expand
genotype-phenotype
correlation
in
this
new
form
of
EBS
and
demonstrate
the
important
role
of
exophilin-
5
in
keratinocyte
cell
biology
.
Diseases
Validation
Diseases presenting
"keratin filament clumping and prominent perinuclear cytoplasmic vesicles"
symptom
epidermolysis bullosa simplex
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