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Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.
[dentinogenesis imperfecta]
The
dentin
sialophosphoprotein
(
DSPP
)
gene
encodes
the
most
abundant
non-collagenous
protein
in
tooth
dentin
and
DSPP
protein
is
cleaved
into
several
segments
including
the
highly
phosphorylated
dentin
phosphoprotein
(
DPP
)
.
Mutations
in
the
DSPP
gene
have
been
solely
related
to
non-syndromic
form
of
hereditary
dentin
defects
.
We
recruited
three
Korean
families
with
dentinogenesis
imperfecta
(
DGI
)
type
II
and
sequenced
the
exons
and
exon-intron
boundaries
of
the
DSPP
gene
based
on
the
candidate
gene
approach
.
Direct
sequencing
of
PCR
products
and
allele-
specific
cloning
of
the
highly
repetitive
exon
5
revealed
novel
single
base
pair
(
bp
)
deletional
mutations
(
c
.
2688
delT
and
c
.
3560
delG
)
introducing
hydrophobic
amino
acids
in
the
hydrophilic
repeat
domain
of
the
DPP
coding
region
.
All
affected
members
of
the
three
families
showed
exceptionally
rapid
pulp
chambers
obliteration
,
even
before
tooth
eruption
.
Individuals
with
the
c
.
3560
delG
mutation
showed
only
mild
,
yellowish
tooth
discoloration
,
in
contrast
to
the
affected
individuals
from
two
families
with
c
.
2688
delT
mutation
.
We
believe
that
these
results
will
help
us
to
understand
the
molecular
pathogenesis
of
DGI
type
II
as
well
as
the
normal
process
of
dentin
biomineralization
.
Diseases
Validation
Diseases presenting
"hydrophobic amino acids in the hydrophilic repeat domain"
symptom
dentinogenesis imperfecta
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