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A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep.
[junctional epidermolysis bullosa]
Junctional
epidermolysis
bullosa
(
JEB
)
is
a
hereditary
mechanobullous
skin
disease
in
humans
and
animals
.
A
Herlitz
type
JEB
was
identified
in
German
Black
Headed
Mutton
(
BHM
)
sheep
and
affected
lambs
were
reproduced
in
a
breeding
trial
.
Affected
lambs
showed
skin
and
mucous
membranes
blistering
and
all
affected
lambs
died
within
the
first
weeks
of
life
.
The
pedigree
data
were
consistent
with
a
monogenic
autosomal
recessive
inheritance
.
Immunofluorescence
showed
a
reduced
expression
of
laminin
5
protein
which
consists
of
3
subunits
encoded
by
the
genes
LAMA
3
,
LAMB
3
and
LAMC
2
.
We
screened
these
genes
for
polymorphisms
.
Linkage
and
genome-
wide
association
analyses
identified
LAMC
2
as
the
most
likely
candidate
for
HJEB
.
A
two
base
pair
deletion
within
exon
18
of
the
LAMC
2
gene
(
FM
872310
:
c
.
2746
delCA
)
causes
a
frameshift
mutation
resulting
in
a
premature
stop
codon
(
p
.
A
928
*
)
13
triplets
downstream
of
this
mutation
and
in
addition
,
introduces
an
alternative
splicing
of
exon
18
LAMC
2
.
This
deletion
showed
a
perfect
co
-segregation
with
HJEB
in
all
740
analysed
BHM
sheep
.
Identification
of
the
LAMC
2
deletion
means
an
animal
model
for
HJEB
is
now
available
to
develop
therapeutic
approaches
of
relevance
to
the
human
form
of
this
disease
.
Diseases
Validation
Diseases presenting
"headed mutton sheep.junctional epidermolysis bullosa"
symptom
junctional epidermolysis bullosa
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