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Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.
[dentinogenesis imperfecta]
Dentinogenesis
imperfecta
is
an
autosomal
dominant
disease
characterized
by
severe
hypomineralization
of
dentin
and
altered
dentin
structure
.
Dentin
extra
cellular
matrix
is
composed
of
90
%
of
collagen
type
I
and
10
%
of
non-collagenous
proteins
among
which
dentin
sialoprotein
(
DSP
)
,
dentin
glycoprotein
(
DGP
)
and
dentin
phosphoprotein
(
DPP
)
are
crucial
in
dentinogenesis
.
These
proteins
are
encoded
by
a
single
gene
:
dentin
sialophosphoprotein
(
DSPP
)
and
undergo
several
post-translational
modifications
such
as
glycosylation
and
phosphorylation
to
contribute
and
to
control
mineralization
.
Human
mutations
of
this
DSPP
gene
are
responsible
for
three
isolated
dentinal
diseases
classified
by
Shield
in
1973
:
type
II
and
III
dentinogenesis
imperfecta
and
type
II
dentin
dysplasia
.
Shield
classification
was
based
on
clinical
phenotypes
observed
in
patient
.
Genetics
results
show
now
that
these
three
diseases
are
a
severity
variation
of
the
same
pathology
.
So
this
review
aims
to
revise
and
to
propose
a
new
classification
of
the
isolated
forms
of
DI
to
simplify
diagnosis
for
practitioners
.
European
Journal
of
Human
Genetics
advance
online
publication
,
13
August
2014
;
doi
:
10
.
1038
/
ejhg
.
2014
.
159
.
Diseases
Validation
Diseases presenting
"severe hypomineralization"
symptom
dentin dysplasia
dentinogenesis imperfecta
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