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Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.
[oligodontia]
The
goal
of
this
work
was
to
identify
all
known
gene
mutations
that
have
been
associated
with
the
development
of
nonsyndromic
oligodontia
.
A
systematic
literature
search
was
performed
electronically
in
two
databases
(
PubMed
,
Medpilot
)
supplemented
by
a
hand
search
.
Articles
published
up
to
March
2012
were
considered
.
Search
terms
were
combined
as
follows
:
oligodontia
and
genes
,
oligodontia
and
mutations
,
tooth
agenesis
and
genes
,
and
tooth
agenesis
and
mutations
.
A
meta
-analysis
of
the
data
was
conducted
based
on
the
Tooth
Agenesis
Code
(
TAC
)
.
Seven
genes
are
currently
known
to
have
a
potential
for
causing
nonsyndromic
oligodontia
.
All
these
genes
vary
both
in
terms
of
number
of
identified
mutations
and
in
terms
of
number
of
documented
patients
:
33
mutations
and
93
patients
are
on
record
for
PAX
9
,
10
mutations
and
51
patients
for
EDA
,
12
mutations
and
33
patients
for
MSX
1
,
6
mutations
and
17
patients
for
AXIN
2
,
and
1
mutation
in
1
patient
for
EDARADD
,
NEMO
,
and
KRT
17
each
.
A
total
TAC
score
of
250
was
found
to
have
cutoff
properties
,
as
100
%
of
MSX
1
and
80
%
of
EDA
patients
exhibited
TAC
≤
250
,
whereas
96
.
9
%
of
PAX
9
and
90
%
of
AXIN
2
patients
exhibited
TAC
>
250
.
Furthermore
,
94
.
3
%
of
EDA
patients
but
only
28
.
6
%
of
MSX
1
patients
exhibited
odd-numbered
TAC
scores
in
at
least
one
quadrant
,
and
72
.
7
%
of
PAX
9
but
none
of
the
AXIN
2
patients
were
found
to
show
TAC
scores
of
112
in
at
least
one
quadrant
.
In
order
of
decreasing
frequency
,
PAX
9
,
EDA
,
MSX
1
,
AXIN
2
,
EDARADD
,
NEMO
,
and
KRT
17
are
the
seven
genes
currently
known
to
have
a
potential
for
causing
nonsyndromic
oligodontia
.
TAC
scores
enabled
us
to
identify
an
association
between
oligodontia
phenotypes
and
genotypes
in
the
patients
covered
by
this
meta
-analysis
.
Diseases
Validation
Diseases presenting
"the development of nonsyndromic oligodontia"
symptom
oligodontia
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