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Novel PAX9 mutations cause non-syndromic tooth agenesis.
[oligodontia]
PAX
9
is
a
transcription
factor
expressed
in
the
tooth
mesenchyme
during
tooth
morphogenesis
.
In
Pax
9
-
null
mice
,
tooth
development
is
arrested
at
the
bud
stage
.
In
humans
,
heterozygous
mutations
in
PAX
9
have
been
associated
with
non-syndromic
tooth
agenesis
,
predominantly
in
the
molars
.
Here
,
we
report
2
novel
mutations
in
the
paired
domain
of
PAX
9
,
a
three
-nucleotide
deletion
(
73
-
75
delATC
)
and
a
missense
mutation
(
C
146
T
)
,
in
two
unrelated
Japanese
patients
with
non-syndromic
tooth
agenesis
.
The
individual
with
the
73
-
75
del
ATC
mutation
was
missing
all
maxillary
molars
and
mandibular
second
and
third
molars
.
The
individual
with
the
C
146
T
mutation
was
missing
the
mandibular
central
incisors
,
maxillary
second
premolars
,
and
first
molars
,
along
with
all
second
and
third
molars
.
Both
mutations
affected
amino
acids
that
are
highly
conserved
among
different
species
and
are
critical
for
DNA
binding
.
When
both
mutants
were
transfected
to
COS
7
cells
,
nuclear
localization
of
PAX
9
proteins
was
not
affected
.
However
,
reduced
expression
of
the
mutant
proteins
and
almost
no
transcriptional
activity
of
the
target
BMP
4
gene
were
observed
,
suggesting
haploinsufficiency
of
PAX
9
as
the
cause
of
non-syndromic
tooth
agenesis
.
Diseases
Validation
Diseases presenting
"almost no transcriptional activity of the target bmp4 gene were observed"
symptom
oligodontia
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