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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
"premature stop codon"
symptom
aromatase deficiency
cadasil
classical phenylketonuria
cohen syndrome
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
triple a syndrome
x-linked adrenoleukodystrophy
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