Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
[oligodontia]
Tooth
agenesis
is
one
of
the
most
common
dental
anomalies
,
with
a
complex
and
not
yet
fully
elucidated
aetiology
.
Given
the
crucial
role
of
the
Wnt
signalling
pathway
during
tooth
development
,
the
purpose
of
this
study
was
to
determine
whether
nucleotide
variants
of
genes
encoding
components
of
this
signalling
pathway
might
be
associated
with
hypodontia
and
oligodontia
in
the
Polish
population
.
A
set
of
34
single
nucleotide
polymorphism
(
SNPs
)
in
13
WNT
and
WNT-related
genes
were
analyzed
in
a
group
of
157
patients
with
tooth
agenesis
and
a
properly
matched
control
group
(
n
 
=
 
430
)
.
In
addition
,
direct
sequencing
was
performed
to
detect
mutations
in
the
MSX
1
,
PAX
9
and
WNT
10
A
genes
.
Both
single
-marker
and
haplotype
analyses
showed
highly
significant
association
between
SNPs
in
the
WNT
10
A
gene
and
the
risk
for
tooth
agenesis
.
Moreover
,
nine
pathogenic
mutations
within
the
coding
region
of
the
WNT
10
A
gene
were
identified
in
26
out
of
42
(
62
%
)
tested
patients
.
One
novel
heterozygous
mutation
was
identified
in
the
PAX
9
gene
.
Borderline
association
with
the
risk
of
non-syndromic
tooth
agenesis
was
also
observed
for
the
APC
,
CTNNB
1
,
DVL
2
and
WNT
11
polymorphisms
.
In
conclusion
,
nucleotide
variants
of
genes
encoding
important
components
of
the
Wnt
signalling
pathway
might
influence
the
risk
of
tooth
agenesis
.
Diseases
Validation
Diseases presenting
"single nucleotide polymorphism"
symptom
cadasil
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
kabuki syndrome
monosomy 21
oligodontia
primary effusion lymphoma
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
