Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).
[oligodontia]
Mutations
in
the
ectodysplasin-
A
(
EDA
)
gene
have
been
generally
associated
with
X-
linked
hypohidrotic
ectodermal
dysplasia
(
XLHED
)
.
Recently
,
missense
mutations
in
EDA
have
been
reported
to
cause
familial
non-syndromic
tooth
agenesis
.
In
this
study
,
we
report
a
novel
EDA
mutation
in
an
Estonian
family
segregating
non-syndromic
tooth
agenesis
with
variable
expressivity
.
Affected
individuals
had
no
associated
defects
in
other
ectodermal
organs
.
Using
whole-exome
sequencing
,
we
identified
a
heterozygous
nonsense
mutation
c
.
874
G
>
T
(
p
.
Glu
292
X
)
in
the
TNF
homology
domain
of
EDA
in
all
affected
female
patients
.
This
protein-altering
variant
arose
de
novo
,
and
the
potentially
causative
allele
was
transmitted
to
affected
offspring
from
the
affected
mother
.
We
suggest
that
the
dental
phenotype
variability
described
in
heterozygous
female
carriers
of
EDA
mutation
may
occur
because
of
the
differential
pattern
of
X-
chromosome
inactivation
,
which
retains
reduced
levels
of
EDA
-receptor
signaling
in
tissues
involved
in
tooth
morphogenesis
.
This
results
in
selective
tooth
agenesis
rather
than
XLHED
phenotype
.
The
present
study
broadens
the
mutation
spectrum
for
this
locus
and
demonstrates
that
EDA
mutations
may
result
in
non-syndromic
tooth
agenesis
in
heterozygous
females
.