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Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.
[oligodontia]
The
genes
for
axin
inhibition
protein
2
(
AXIN
2
)
,
msh
homeobox
1
(
MSX
1
)
,
and
paired
box
gene
9
(
PAX
9
)
are
involved
in
tooth
root
formation
and
tooth
development
.
Mutations
of
the
AXIN
2
,
MSX
1
,
and
PAX
9
genes
are
associated
with
non-syndromic
oligodontia
.
In
this
study
,
we
investigated
phenotype
and
AXIN
2
,
MSX
1
,
and
PAX
9
gene
variations
in
two
Mexican
families
with
non-syndromic
oligodontia
.
Individuals
from
two
families
underwent
clinical
examinations
,
including
an
intra-
oral
examination
and
panoramic
radiograph
.
Retrospective
data
were
reviewed
,
and
peripheral
blood
samples
were
collected
.
The
exons
and
exon-intronic
boundaries
of
the
AXIN
2
,
MSX
1
,
and
PAX
9
genes
were
sequenced
and
analyzed
.
Protein
and
messenger
RNA
structures
were
predicted
using
bioinformative
software
programs
.
Clinical
and
oral
examinations
revealed
isolated
non-syndromic
oligodontia
in
the
two
Mexican
families
.
The
average
number
of
missing
teeth
was
12
.
The
sequence
analysis
of
exons
and
exon-intronic
regions
of
AXIN
2
,
MSX
1
,
and
PAX
9
revealed
11
single
-nucleotide
polymorphisms
(
SNPs
)
,
including
seven
in
AXIN
2
,
two
in
MSX
1
,
and
three
in
PAX
9
.
One
novel
SNP
of
MSX
1
,
c
.
476
T
>
G
(
Leu
159
A
rg
)
,
was
found
in
all
of
the
studied
patients
in
the
families
.
MSX
1
Leu
159
A
rg
and
PAX
9
Ala
240
Pro
change
protein
and
messenger
RNA
structures
.
Our
findings
suggested
that
a
combined
reduction
of
MSX
1
and
PAX
9
gene
dosages
increased
the
risk
for
oligodontia
in
the
Mexican
families
,
as
in
vivo
investigation
has
indicated
that
interaction
between
Msx
1
and
Pax
9
is
required
for
tooth
development
.
Diseases
Validation
Diseases presenting
"as in vivo investigation has indicated that interaction between msx1 and pax9 is required for tooth development"
symptom
oligodontia
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