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Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
[dentin dysplasia]
Dentinogenesis
imperfecta
(
DGI
)
and
dentin
dysplasia
(
DD
)
are
allelic
disorders
that
primarily
affect
the
formation
of
tooth
dentin
.
Both
conditions
are
autosomal-dominant
and
can
be
caused
by
mutations
in
the
dentin
sialophosphoprotein
gene
(
DSPP
,
4
q
21
.
3
)
.
We
recruited
23
members
of
a
four
-generation
kindred
,
including
ten
persons
with
dentin
defects
,
and
tested
the
hypothesis
that
these
defects
are
linked
to
DSPP
.
The
primary
dentition
showed
amber
discoloration
,
pulp
obliteration
,
and
severe
attrition
.
The
secondary
dentition
showed
either
pulp
obliteration
with
bulbous
crowns
and
gray
discoloration
or
thistle-tube
pulp
configurations
,
normal
crowns
,
and
mild
gray
discoloration
.
Haplotype
analyses
showed
no
recombination
between
three
4
q
21
-
q
24
markers
and
the
disease
locus
.
Mutational
analyses
identified
no
coding
or
intron
junction
sequence
variations
associated
with
affection
status
in
DMP
1
,
MEPE
,
or
the
DSP
portion
of
DSPP
.
The
defects
in
the
permanent
dentition
were
typically
mild
and
consistent
with
a
diagnosis
of
DD-
II
,
but
some
dental
features
associated
with
DGI
-
II
were
also
present
.
We
conclude
that
DD-
II
and
DGI
-
II
are
milder
and
more
severe
forms
,
respectively
,
of
the
same
disease
.
Diseases
Validation
Diseases presenting
"dentinogenesis imperfecta"
symptom
dentin dysplasia
dentinogenesis imperfecta
oligodontia
papillon-lefèvre syndrome
This symptom has already been validated