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WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.
[oligodontia]
A
large
proportion
(
>
50
%
)
of
patients
with
isolated
oligodontia
were
recently
reported
with
WNT
10
A
mutations
.
We
have
analyzed
a
population-based
cohort
of
102
individuals
diagnosed
with
non-syndromic
oligodontia
and
a
mean
of
8
.
2
missing
teeth
.
The
cohort
included
94
families
and
screening
of
WNT
10
A
identified
that
26
probands
(
27
.
7
%
)
had
at
least
one
WNT
10
A
variant
.
When
we
included
the
MSX
1
,
PAX
9
,
AXIN
2
,
EDA
,
EDAR
,
and
EDARADD
genes
,
38
.
3
%
of
probands
were
positive
for
a
mutation
.
Biallelic
WNT
10
A
mutations
were
strongly
associated
with
a
larger
number
of
missing
teeth
(
11
.
09
)
when
compared
to
both
monoallelic
WNT
1
0
mutations
(
6
.
82
)
and
the
group
without
mutations
in
WNT
10
A
,
MSX
1
,
PAX
9
,
AXIN
2
,
EDA
,
EDAR
,
or
EDARADD
(
7
.
77
)
.
Genotype-phenotype
analysis
of
individuals
with
WNT
10
A
mutations
showed
that
premolars
were
the
most
common
missing
teeth
.
Furthermore
,
biallelic
WNT
10
A
mutations
were
associated
with
absence
of
maxillary
and
mandibular
molars
as
well
as
mandibular
central
incisors
.
Maxillary
central
incisors
were
always
present
.
Thus
,
our
study
indicates
that
WNT
10
A
mutations
are
associated
with
both
the
type
and
numbers
of
missing
teeth
.
Furthermore
,
we
show
that
this
population-based
cohort
of
isolated
oligodontia
had
a
considerably
lower
frequency
of
mutated
WNT
10
A
alleles
and
a
lower
mean
number
of
missing
teeth
when
compared
to
patients
recruited
from
dental
specialist
centers
.
Diseases
Validation
Diseases presenting
"a larger number of missing teeth"
symptom
oligodontia
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