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Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
[oligodontia]
Dental
agenesis
is
the
most
common
,
often
heritable
,
developmental
anomaly
in
humans
.
Although
WNT
10
A
gene
mutations
are
known
to
cause
rare
syndromes
associated
with
tooth
agenesis
,
including
onycho-odontodermal
dysplasia
(
OODD
)
,
Schöpf-
Schulz-
Passarge
syndrome
(
SSPS
)
,
hypohidrotic
ectodermal
dysplasia
(
HED
)
,
and
more
than
half
of
the
cases
of
isolated
oligodontia
recently
,
the
genotype-phenotype
correlations
and
the
mode
of
inheritance
of
WNT
10
A
mutations
remain
unclear
.
The
phenotypic
expression
with
WNT
10
A
mutations
shows
a
high
degree
of
variability
,
suggesting
that
other
genes
might
function
with
WNT
10
A
in
regulating
ectodermal
organ
development
.
Moreover
,
the
involvement
of
mutations
in
other
genes
,
such
as
EDA
,
which
is
also
associated
with
HED
and
isolated
tooth
agenesis
,
is
not
clear
.
Therefore
,
we
hypothesized
that
EDA
mutations
interact
with
WNT
10
A
mutations
to
play
a
role
in
tooth
agenesis
.
Additionally
,
EDA
,
EDAR
,
and
EDARADD
encode
signaling
molecules
in
the
Eda
/
Edar
/
NF-κB
signaling
pathways
,
we
also
checked
EDAR
and
EDARADD
in
this
study
.
W
NT
10
A
,
EDA
,
EDAR
and
EDARADD
were
sequenced
in
88
patients
with
isolated
oligodontia
and
26
patients
with
syndromic
tooth
agenesis
.
The
structure
of
two
mutated
WNT
10
A
and
two
mutated
EDA
proteins
was
analyzed
.
Digenic
mutations
of
both
WNT
10
A
and
EDA
were
identified
in
2
of
88
(
2
.
27
%
)
isolated
oligodontia
cases
and
4
of
26
(
15
.
38
%
)
syndromic
tooth
agenesis
cases
.
No
mutation
in
EDAR
or
EDARADD
gene
was
found
.
W
NT
10
A
and
EDA
digenic
mutations
could
result
in
oligodontia
and
syndromic
tooth
agenesis
in
the
Chinese
population
.
Moreover
,
our
results
will
greatly
expand
the
genotypic
spectrum
of
tooth
agenesis
.
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