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Novel nonsense mutation in MSX1 in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain/MH4.
[oligodontia]
Nonsyndromic
tooth
agenesis
is
one
of
the
most
common
anomalies
in
human
development
.
Part
of
the
malformation
is
inherited
and
is
associated
with
paired
box
9
(
PAX
9
)
,
msh
homeobox
1
(
MSX
1
)
,
and
axin
2
(
AXIN
2
)
mutations
.
To
obtain
a
comprehensive
understanding
of
the
genetic
and
molecular
mechanisms
that
underlie
this
genetic
disease
,
we
investigated
six
familial
and
seven
sporadic
Japanese
cases
of
nonsyndromic
tooth
agenesis
.
Searches
for
mutations
in
these
candidate
genes
detected
a
novel
nonsense
mutation
(
c
.
416
G
>
A
)
in
exon
1
of
MSX
1
from
a
family
with
oligodontia
.
This
mutation
co
-segregated
in
the
affected
family
members
.
Moreover
,
this
mutation
produced
a
termination
codon
in
the
first
exon
and
therefore
the
gene
product
(
W
139
X
)
was
truncated
at
the
C
terminus
,
hence
,
the
entire
homeodomain
/
MH
4
,
which
has
many
functions
,
such
as
DNA
binding
,
protein-protein
interaction
,
and
nuclear
localization
,
was
absent
.
We
characterized
the
properties
of
this
truncated
MSX
1
by
investigating
the
subcellular
localization
of
the
mutant
gene
product
in
transfected
cells
.
The
wild-
type
MSX
1
localized
exclusively
at
the
nuclear
periphery
of
transfected
cells
,
whereas
the
mutant
MSX
1
was
stable
but
localized
diffusely
throughout
the
whole
cell
.
These
results
indicate
that
W
139
X
MSX
1
is
responsible
for
tooth
agenesis
.
Diseases
Validation
Diseases presenting
"first exon"
symptom
aromatase deficiency
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
hydrocephalus with stenosis of the aqueduct of sylvius
oligodontia
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