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Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.
[oligodontia]
Both
BMP
2
and
BMP
4
are
involved
in
tooth
development
.
We
examined
phenotypes
and
BMP
2
and
BMP
4
gene
variations
in
two
Mexican
oligodontia
families
.
Physical
and
oral
examinations
and
panoramic
radiographs
were
performed
on
affected
and
unaffected
members
in
these
two
families
.
The
affected
members
lacked
six
or
more
teeth
.
DNA
sequencing
was
performed
to
detect
BMP
2
and
BMP
4
gene
variations
.
Three
single
nucleotide
polymorphisms
(
SNPs
)
in
BMP
2
and
BMP
4
genes
were
identified
in
the
two
families
,
including
one
synonymous
and
two
missense
SNPs
:
BMP
2
c
261
A
>
G
,
pS
87
S
,
BMP
2
c
570
A
>
T
,
pR
190
S
,
and
BMP
4
c
455
T
>
C
,
pV
152
A
.
Among
the
six
affected
patients
,
67
%
carried
"
GG
"
or
"
AG
"
genotype
in
BMP
2
c
261
A
>
G
and
four
were
"
TT
"
or
"
AT
"
genotype
in
BMP
2
c
570
A
>
T
(
pR
190
S
)
.
Polymorphism
of
BMP
4
c
455
T
>
C
resulted
in
amino
acid
changes
of
Val
/
Ala
(
pV
152
A
)
.
BMP
2
c
261
A
>
G
and
BMP
4
c
455
T
>
C
affect
mRNA
stability
.
This
was
the
first
time
that
BMP
2
and
BMP
4
SNPs
were
observed
in
Mexican
oligodontia
families
.
Diseases
Validation
Diseases presenting
"panoramic radiographs were performed on affected and unaffected members in these two families"
symptom
oligodontia
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