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Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees.
[oligodontia]
Even
though
tooth
agenesis
is
the
most
common
developmental
anomaly
of
the
human
dentition
,
its
genetic
background
and
pathogenic
mechanism
(
s
)
still
remain
poorly
understood
.
Syndromic
and
isolated
forms
of
hypodontia
have
been
described
and
can
occur
sporadically
or
in
families
.
We
describe
and
analyse
the
hypo-
/
oligodontia
phenotype
variations
in
families
.
The
index
patient
suffers
from
severe
or
mild
hypodontia
;
case-parents
/
sib
records
are
available
.
Furthermore
,
we
aim
to
evaluate
whether
the
different
agenesis
patterns
in
the
pedigrees
are
predictive
of
mutations
in
specific
genes
based
on
reported
genotype-phenotype
associations
.
Dental
records
and
pedigrees
were
collected
from
79
families
.
In
67
families
,
the
index
patient
presented
with
oligodontia
while
in
12
families
with
hypodontia
.
The
phenotype
data
of
66
oligodontia
index
patients
were
analysed
with
the
Tooth
Agenesis
Code
software
.
Nine
families
counted
two
members
;
one
family
counted
three
members
affected
with
oligodontia
.
Twenty
-
four
oligodontia
families
respectively
had
one
(
n
=
17
)
,
two
(
n
=
4
)
,
three
(
n
=
2
)
or
four
(
n
=
1
)
additional
family
members
presenting
with
hypodontia
.
Of
the
77
oligodontia
cases
,
two
showed
the
same
tooth
agenesis
pattern
,
while
75
patients
showed
unique
tooth
agenesis
patterns
.
Despite
familial
aggregation
and
expected
Mendelian
segregation
,
the
number
of
missing
teeth
in
the
familial
hypo-
/
oligodontia
phenotypes
and
the
tooth
agenesis
patterns
are
highly
variable
between
the
affected
family
members
.
Therefore
,
we
hypothesize
that
tooth
agenesis
is
not
(
always
)
a
simple
monogenic
condition
,
but
additional
genetic
or
environmental
factors
can
modify
the
expression
of
the
phenotype
.
Diseases
Validation
Diseases presenting
"anomaly of the human dentition"
symptom
oligodontia
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