Rare Diseases Symptoms Automatic Extraction
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Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.
[junctional epidermolysis bullosa]
Laminin
5
is
a
heterotrimeric
basement
membrane
protein
integral
to
the
structure
and
function
of
the
dermal-epidermal
junction
.
It
consists
of
three
glycoprotein
subunits
:
the
alpha
3
,
beta
3
and
gamma
2
chains
,
which
are
encoded
by
the
LAMA
3
,
LAMB
3
and
LAMC
2
genes
respectively
.
A
mutation
in
any
of
these
genes
results
in
the
condition
known
as
hereditary
junctional
epidermolysis
bullosa
(
JEB
)
.
A
6589
-
bp
deletion
spanning
exons
24
-
27
was
found
in
the
LAMA
3
gene
in
American
Saddlebred
foals
born
with
the
skin
-blistering
condition
epitheliogenesis
imperfecta
.
The
deletion
confirms
that
this
autosomal
recessive
condition
in
the
American
Saddlebred
Horse
can
indeed
be
classified
as
JEB
and
corresponds
to
Herlitz
JEB
in
humans
.
A
diagnostic
test
was
developed
and
nine
of
175
randomly
selected
American
Saddlebred
foals
from
the
2007
foal
crop
were
found
to
be
carriers
of
the
mutation
(
frequency
of
0
.
026
)
.
