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Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
[dentin dysplasia]
Dentine
dysplasia
type
II
is
an
autosomal
dominant
disorder
in
which
mineralization
of
the
dentine
of
the
primary
teeth
is
abnormal
.
On
the
basis
of
the
phenotypic
overlap
between
,
and
shared
chromosomal
location
with
,
dentinogenesis
imperfecta
type
II
,
a
second
disorder
of
dentine
mineralization
,
it
has
been
proposed
that
the
two
conditions
are
allelic
.
As
recent
studies
have
shown
that
dentinogenesis
imperfecta
type
II
results
from
mutation
of
the
bicistronic
dentine
sialophosphoprotein
gene
(
DSPP
)
,
we
have
tested
this
hypothesis
by
sequencing
DSPP
in
a
family
with
a
history
of
dentine
dysplasia
type
II
.
Our
results
have
shown
that
a
missense
change
,
which
causes
the
substitution
of
a
tyrosine
for
an
aspartic
acid
in
the
hydrophobic
signal
peptide
domain
of
the
protein
,
underlies
the
phenotype
in
this
family
.
Biochemical
analysis
has
further
demonstrated
that
this
mutation
causes
a
failure
of
translocation
of
the
encoded
proteins
into
the
endoplasmic
reticulum
,
and
is
therefore
likely
to
lead
to
a
loss
of
function
of
both
dentine
sialoprotein
and
dentine
phosphoprotein
.
Diseases
Validation
Diseases presenting
"dentinogenesis imperfecta"
symptom
dentin dysplasia
dentinogenesis imperfecta
oligodontia
papillon-lefèvre syndrome
This symptom has already been validated
