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Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
[junctional epidermolysis bullosa]
Non-
Herlitz
junctional
epidermolysis
bullosa
(
nH-
JEB
)
disease
manifests
with
skin
blistering
,
atrophy
and
tooth
enamel
hypoplasia
.
The
majority
of
patients
with
nH-
JEB
harbor
mutations
in
COL
17
A
1
,
the
gene
encoding
type
XVII
collagen
.
Heterozygotes
with
a
single
COL
17
A
1
mutation
,
nH-
JEB
defect
carriers
,
may
exhibit
only
enamel
hypoplasia
.
In
this
study
,
to
further
elucidate
COL
17
A
1
mutation
phenotype
/
genotype
correlations
,
we
examined
two
unrelated
families
with
nH-
JEB
.
Furthermore
,
we
hypothesized
that
COL
17
A
1
mutations
might
underlie
or
worsen
the
enamel
hypoplasia
seen
in
amelogenesis
imperfecta
(
AI
)
patients
that
are
characterized
by
defects
in
tooth
enamel
formation
without
other
systemic
manifestations
.
We
therefore
conducted
COL
17
A
1
mutational
analysis
in
three
patients
from
two
AI
families
.
One
nH-
JEB
patient
showed
no
COL
17
A
1
expression
and
was
a
compound
heterozygote
for
the
novel
premature
termination
codon
(
PTC
)
mutations
1285
delA
and
Q
1387
X
.
In
addition
,
reduced
COL
17
A
1
expression
was
found
in
a
second
nH-
JEB
patient
who
was
homozygous
for
the
novel
PTC
mutation
4335
delC
,
the
most
carboxyl
terminal
PTC
mutation
thus
far
identified
.
Due
to
nonsense
mediated
mRNA
decay
,
the
position
of
these
PTC
mutations
is
thought
not
to
influence
the
effect
of
COL
17
A
1
transcript
loss
and
hence
the
severity
of
the
nH-
JEB
phenotype
.
This
study
is
the
first
to
suggest
that
type
XVII
collagen
carboxyl
PTC
mutations
lead
to
restoration
of
truncated
polypeptide
expression
and
to
a
milder
clinical
disease
severity
in
nH-
JEB
.
Conversely
,
we
failed
to
detect
any
pathogenic
COL
17
A
1
defects
in
AI
patients
,
in
either
exon
or
within
the
intron-exon
borders
of
AI
patients
.
This
study
furthers
the
understanding
of
mutations
in
COL
17
A
1
causing
nH-
JEB
,
and
clearly
demonstrates
that
the
mechanism
of
enamel
hypoplasia
differs
between
nH-
JEB
and
AI
diseases
.
Diseases
Validation
Diseases presenting
"enamel formation"
symptom
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
junctional epidermolysis bullosa
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