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Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
[dentin dysplasia]
The
current
system
for
the
classification
of
hereditary
defects
of
tooth
dentin
is
based
upon
clinical
and
radiographic
findings
and
consists
of
two
types
of
dentin
dysplasia
(
DD
)
and
three
types
of
dentinogenesis
imperfecta
(
DGI
)
.
However
,
whether
DGI
type
III
should
be
considered
a
distinct
phenotype
or
a
variation
of
DGI
type
II
is
debatable
.
In
the
30
years
since
the
classification
system
was
first
proposed
,
significant
advances
have
been
made
regarding
the
genetic
etiologies
of
inherited
dentin
defects
.
DGI
type
II
is
recognized
as
an
autosomal
dominant
disorder
with
almost
complete
penetrance
and
a
low
frequency
of
de
novo
mutations
.
We
have
identified
a
mutation
(
c
.
52
G--
>
T
,
p
.
V
18
F
)
at
the
first
nucleotide
of
exon
3
of
the
DSPP
(
dentin
sialophosphoprotein
)
gene
in
a
Korean
family
(
de
novo
)
and
a
Caucasian
family
.
This
mutation
has
previously
been
reported
as
causing
DGI
type
II
in
a
Chinese
family
.
These
findings
suggest
that
this
mutation
site
represents
a
mutational
"
hot
spot
"
in
the
DSPP
gene
.
The
clinical
and
radiographic
features
of
these
two
families
include
the
classic
phenotypes
associated
with
both
DGI
type
II
and
type
III
.
Finding
that
a
single
mutation
causes
both
phenotypic
patterns
strongly
supports
the
conclusion
that
DGI
type
II
and
DGI
type
III
are
not
separate
diseases
but
rather
the
phenotypic
variation
of
a
single
disease
.
We
propose
a
modification
of
the
current
classification
system
such
that
the
designation
"
hereditary
opalescent
dentin
"
or
"
DGI
type
II
"
should
be
used
to
describe
both
the
DGI
type
II
and
type
III
phenotypes
.
Diseases
Validation
Diseases presenting
"almost complete penetrance"
symptom
dentin dysplasia
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