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Oligodontia and curly hair occur with ectodysplasin-a mutations.
[oligodontia]
Oligodontia
is
the
developmental
absence
of
more
than
5
permanent
teeth
except
for
the
third
molar
.
Familial
oligodontia
can
occur
as
an
isolated
form
or
as
part
of
a
genetic
syndrome
.
Mutations
in
the
MSX
1
,
PAX
9
,
AXIN
2
,
EDA
,
and
WNT
10
A
genes
have
been
identified
in
familial
non-syndromic
oligodontia
.
Ectodermal
dysplasia
is
a
group
of
syndromes
involving
abnormalities
of
the
ectodermal
structures
and
is
comprised
of
more
than
150
different
forms
.
Mutations
in
the
ectodysplasin-
A
(
EDA
)
gene
have
been
associated
with
X-
linked
hypohidrotic
ectodermal
dysplasia
,
and
partial
disruption
of
the
EDA
signaling
pathway
has
been
shown
to
cause
an
isolated
form
of
oligodontia
.
We
identified
2
X-
linked
oligodontia
families
and
performed
mutational
analysis
of
the
EDA
gene
.
The
mutational
analysis
revealed
2
novel
EDA
mutations
:
c
.
866
G
>
T
,
p
.
Arg
289
Leu
and
c
.
1135
T
>
G
,
p
.
Phe
379
Val
(
reference
sequence
NM
_
001399
.
4
)
.
These
mutations
were
perfectly
segregated
with
oligodontia
and
curly
hair
within
each
family
and
were
not
found
in
the
150
control
X-
chromosomes
with
the
same
ethnic
background
and
in
the
exome
variant
server
.
This
study
broadens
the
mutational
spectrum
of
the
EDA
gene
and
the
understanding
of
X-
linked
oligodontia
with
curly
hair
.