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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
"single nucleotide polymorphisms"
symptom
adrenomyeloneuropathy
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hirschsprung disease
neonatal adrenoleukodystrophy
oculocutaneous albinism
oligodontia
pendred syndrome
primary effusion lymphoma
scrub typhus
triple a syndrome
waldenström macroglobulinemia
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