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A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia.
[dentin dysplasia]
The
dentin
sialophosphoprotein
(
DSPP
)
gene
on
chromosome
4
q
21
.
3
encodes
the
major
noncollagenous
protein
in
tooth
dentin
.
DSPP
mutations
are
the
principal
cause
of
dentin
dysplasia
type
II
,
dentinogenesis
imperfecta
type
II
,
and
dentinogenesis
imperfecta
type
III
.
We
have
identified
a
DSPP
splice
junction
mutation
(
IVS
2
-
6
T
>
G
)
in
a
family
with
dentin
dysplasia
type
II
.
The
primary
dentition
is
discolored
brown
with
severe
attrition
.
The
mildly
discolored
permanent
dentition
has
thistle-shaped
pulp
chambers
,
pulp
stones
,
and
eventual
pulp
obliteration
.
The
mutation
is
in
the
sixth
nucleotide
from
the
end
of
intron
2
,
perfectly
segregates
with
the
disease
phenotype
,
and
is
absent
in
200
normal
control
chromosomes
.
An
in
vitro
splicing
assay
shows
that
pre-m
RNA
splicing
of
the
mutant
allele
generates
wild-
type
mRNA
and
mRNA
lacking
exon
3
in
approximately
equal
amounts
.
Skipping
exon
3
might
interfere
with
signal
peptide
cleavage
,
causing
endoplasmic
reticulum
stress
,
and
also
reduce
DSPP
secretion
,
leading
to
haploinsufficiency
.
Diseases
Validation
Diseases presenting
"mildly discolored permanent dentition"
symptom
dentin dysplasia
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