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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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