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A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.
[oligodontia]
Oligodontia
,
which
is
the
congenital
absence
of
six
or
more
permanent
teeth
,
excluding
the
third
molars
,
may
contribute
to
masticatory
dysfunction
,
speech
alteration
,
aesthetic
problems
and
malocclusion
.
Msh
homeobox
1
(
MSX
1
)
was
the
first
gene
identified
as
causing
non-syndromic
oligodontia
.
In
this
study
,
we
identified
a
novel
heterozygous
non-stop
mutation
(
c
.
910
_
911
dupTA
,
p
.
*
304
Tyrext
*
48
)
in
MSX
1
in
a
Chinese
family
with
autosomal
dominant
non-syndromic
oligodontia
.
This
novel
mutation
substitutes
the
stop
codon
with
a
tyrosine
residue
,
potentially
adding
48
amino
acids
to
the
C-
terminus
of
MSX
1
.
Further
in
vitro
study
found
that
mutant
MSX
1
could
be
expressed
but
had
lost
its
ability
to
enter
the
nucleus
.
This
is
the
first
report
indicating
that
a
non-stop
mutation
in
MSX
1
is
responsible
for
oligodontia
.
This
study
broadens
the
mutation
spectrum
for
MSX
1
and
provides
a
new
way
to
clarify
the
mechanism
of
MSX
1
in
tooth
agenesis
.
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achondroplasia
alexander disease
aniridia
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congenital toxoplasmosis
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zellweger syndrome
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