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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
[junctional epidermolysis bullosa]
Junctional
epidermolysis
bullosa
,
type
Herlitz
(
JEB-H
)
is
a
lethal
,
autosomal
recessive
blistering
disease
caused
by
null
mutations
in
the
genes
coding
for
the
lamina
lucida
/
densa
adhesion
protein
laminin-
332
(
LAMB
3
,
LAMA
3
and
LAMC
2
)
.
To
present
the
diagnostic
features
and
molecular
analyses
of
all
22
patients
with
JEB-H
in
the
Dutch
Epidermolysis
Bullosa
Registry
between
1988
and
2011
,
and
to
calculate
the
disease
incidence
and
carrier
frequency
in
the
Netherlands
.
A
ll
patients
were
analysed
with
immunofluorescence
antigen
mapping
(
IF
)
,
electron
microscopy
(
EM
)
and
molecular
analysis
.
The
mean
lifespan
of
our
patients
with
JEB-H
was
5
·
8
months
(
range
0
·
5
-
32
·
6
)
.
IF
showed
absent
(
91
%
)
or
strongly
reduced
(
9
%
)
staining
for
laminin-
332
with
monoclonal
antibody
GB
3
.
In
EM
the
hemidesmosomes
and
sub-
basal
dense
plates
were
hypoplastic
or
absent
.
We
identified
mutations
in
all
22
patients
:
in
19
we
found
LAMB
3
mutations
,
in
two
LAMA
3
mutations
,
and
in
one
LAMC
2
mutations
.
We
found
three
novel
splice
site
mutations
in
LAMB
3
:
(
i
)
c
.
29
-
2
A
>
G
resulting
in
an
out-of-frame
skip
of
exon
3
and
a
premature
termination
codon
(
PTC
)
;
(
ii
)
c
.
1289
-
2
_
1296
del
10
leading
to
an
out-of-frame
skip
of
exon
12
and
a
PTC
;
and
(
iii
)
c
.
3228
+
1
G
>
T
leading
to
an
exon
21
skip
.
A
ll
diagnostic
tools
should
be
evaluated
to
clarify
the
diagnosis
of
JEB-H
.
We
have
identified
11
different
mutations
in
22
patients
with
JEB-H
,
three
of
them
novel
.
In
the
Netherlands
the
incidence
rate
of
JEB-H
is
4
·
0
per
one
million
live
births
.
The
carrier
frequency
of
a
JEB-H
mutation
in
the
Dutch
population
is
1
in
249
.