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Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.
[oligodontia]
Oligodontia
,
which
is
the
congenital
absence
of
six
or
more
permanent
teeth
excluding
third
molars
,
may
contribute
to
masticatory
dysfunction
,
speech
alteration
,
aesthetic
problems
and
malocclusion
.
To
date
,
mutations
in
EDA
,
AXIN
2
,
MSX
1
,
PAX
9
,
WNT
10
A
,
EDAR
,
EDARADD
,
NEMO
and
KRT
17
are
known
to
associate
with
non-syndromic
oligodontia
.
The
aim
of
the
study
was
to
search
for
AXIN
2
mutations
in
96
patients
with
non-syndromic
oligodontia
.
We
performed
mutation
analysis
of
10
exons
of
the
AXIN
2
gene
in
96
patients
with
isolated
non-syndromic
oligodontia
.
We
identified
two
novel
missense
mutations
(
Exon
3
c
.
923
C
>
T
and
Exon
11
c
.
2490
G
>
C
)
in
two
patients
.
One
mutation
(
c
.
923
C
>
T
)
results
in
a
Thr
308
M
et
substitution
and
the
other
mutation
(
c
.
2490
G
>
C
)
results
in
a
Met
830
I
le
substitution
.
This
is
the
first
report
indicating
that
mutations
in
AXIN
2
are
responsible
for
oligodontia
in
the
Chinese
population
.
Our
findings
indicate
that
AXIN
2
can
be
regarded
as
a
candidate
gene
for
mutation
detection
in
individuals
with
non-syndromic
oligodontia
in
the
Chinese
population
.
Diseases
Validation
Diseases presenting
"oligodontia"
symptom
achondroplasia
dentin dysplasia
dentinogenesis imperfecta
oligodontia
This symptom has already been validated