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Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
[junctional epidermolysis bullosa]
Herlitz
junctional
epidermolysis
bullosa
(
HJEB
;
MIM
226700
)
is
a
rare
epithelial
adhesion
disorder
caused
by
null
mutations
in
any
of
the
three
genes
encoding
the
alpha
3
,
beta
3
and
gamma
2
chains
of
laminin-
5
,
and
is
mainly
characterized
by
extensive
mucocutaneous
blistering
,
recurrent
infections
and
early
lethality
.
To
perform
immunoepitope
mapping
,
electron
microscopy
and
molecular
analysis
of
five
Italian
patients
with
HJEB
in
order
to
complete
the
clinical
and
molecular
characterization
of
patients
with
HJEB
collected
in
the
Italian
Registry
of
hereditary
epidermolysis
bullosa
(
IRHEB
)
and
to
calculate
the
HJEB
carrier
frequency
in
this
population
.
Skin
biopsies
from
perilesional
skin
of
all
patients
were
employed
for
immunoepitope
mapping
and
electron
microscopy
examination
.
Blood
genomic
DNA
was
used
for
mutation
analysis
in
the
LAMA
3
,
LAMB
3
and
LAMC
2
genes
by
heteroduplex
scanning
,
preceded
by
a
search
for
Italian
recurrent
mutations
.
Carrier
frequency
calculation
was
performed
assuming
Hardy-
Weinberg
equilibrium
.
Two
novel
mutations
in
the
LAMA
3
(
p
.
R
782
X
)
and
LAMC
2
(
c
.
3235
delA
)
genes
,
as
well
as
three
known
and
recurrent
mutations
in
the
LAMB
3
(
c
.
31
insC
and
p
.
R
81
X
)
and
LAMC
2
(
p
.
Y
355
X
)
genes
were
identified
.
Based
on
disease
incidence
reported
in
the
IRHEB
and
the
prevalence
of
mutations
in
each
laminin-
5
gene
,
the
population
carrier
risk
for
HJEB
was
calculated
to
be
one
in
375
.
Our
delineation
of
a
laminin-
5
mutational
spectrum
in
the
general
Italian
population
provides
a
solid
basis
for
expedited
diagnosis
,
accurate
genetic
counselling
and
DNA-based
prenatal
testing
for
Italian
families
at
risk
for
recurrence
of
HJEB
.
Diseases
Validation
Diseases presenting
"recurrent infections"
symptom
22q11.2 deletion syndrome
junctional epidermolysis bullosa
kabuki syndrome
omenn syndrome
wiskott-aldrich syndrome
This symptom has already been validated