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A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
[dentin dysplasia]
Hereditary
defects
of
tooth
dentin
are
classified
into
two
main
groups
:
dentin
dysplasia
(
DD
)
(
types
I
and
II
)
and
dentinogenesis
imperfecta
(
DGI
)
(
types
I
,
II
,
and
III
)
.
Type
II
DGI
is
one
of
the
most
common
tooth
defects
with
an
autosomal
dominant
mode
of
inheritance
.
One
disease-causing
gene
,
the
dentin
sialophosphoprotein
(
DSPP
)
gene
,
has
been
reported
for
type
II
DGI
.
In
this
study
,
we
characterized
a
four
-generation
Chinese
family
with
type
II
DGI
that
consists
of
18
living
family
members
,
including
8
affected
individuals
.
Linkage
analysis
with
polymorphic
markers
D
4
S
1534
and
D
4
S
414
that
span
the
DSPP
gene
showed
that
the
family
is
linked
to
DSPP
.
All
five
exons
and
exon-intron
boundaries
of
DSPP
were
sequenced
in
members
of
type
II
DGI
family
.
D
irect
DNA
sequence
analysis
identified
a
novel
mutation
(
c
.
49
C--
>
T
,
p
.
Pro
17
Ser
)
in
exon
1
of
the
DSPP
gene
.
The
mutation
spot
,
the
Pro
17
residue
,
is
the
second
amino
acid
of
the
mature
DSP
protein
,
and
highly
conserved
during
evolution
.
The
mutation
was
identified
in
all
affected
individuals
,
but
not
in
normal
family
members
and
100
controls
.
These
results
suggest
that
mutation
p
.
P
ro
17
S
er
causes
type
II
DGI
in
the
Chinese
family
.
This
study
identifies
a
novel
mutation
in
the
DSPP
gene
,
and
expands
the
spectrum
of
mutations
that
cause
DGI
.
Diseases
Validation
Diseases presenting
"and expands the spectrum of mutations that cause dgi"
symptom
dentin dysplasia
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