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A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
[dentinogenesis imperfecta]
Dentinogenesis
imperfecta
(
DGI
)
type
II
is
an
autosomal
dominant
disease
characterized
by
a
serious
disorders
in
teeth
.
Mutations
of
dentin
sialophosphoprotein
(
DSPP
)
gene
were
revealed
to
be
the
causation
of
DGI
type
II
(
DGI
-
II
)
.
In
this
study
,
we
identified
a
novel
mutation
(
NG
_
011595
.
1
:
g
.
8662
T
>
C
,
c
.
135
+
2
T
>
C
)
lying
in
the
splice
donor
site
of
intron
3
of
DSPP
gene
in
a
Chinese
Han
DGI
-
II
pedigree
.
It
was
found
in
all
affected
subjects
but
not
in
unaffected
ones
or
other
unrelated
healthy
controls
.
The
function
of
the
mutant
DSPP
gene
,
which
was
predicted
online
and
subsequently
confirmed
by
in
vitro
splicing
analysis
,
was
the
loss
of
splicing
of
intron
3
,
leading
to
the
extended
length
of
DSPP
mRNA
.
For
the
first
time
,
the
functional
non-splicing
of
intron
was
revealed
in
a
novel
DSPP
mutation
and
was
considered
as
the
causation
of
DGI
-
II
.
It
was
also
indicated
that
splicing
was
of
key
importance
to
the
function
of
DSPP
and
this
splice
donor
site
might
be
a
sensitive
mutation
hot
spot
.
Our
findings
combined
with
other
reports
would
facilitate
the
genetic
diagnosis
of
DGI
-
II
,
shed
light
on
its
gene
therapy
and
help
to
finally
conquer
human
diseases
.