Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
[oligodontia]
Ectodermal
dysplasias
(
ED
)
are
a
clinically
and
genetically
heterogeneous
group
of
hereditary
disorders
that
have
in
common
abnormal
development
of
ectodermal
derivatives
.
Hypohidrotic
ectodermal
dysplasia
(
HED
)
is
characterized
by
abnormal
development
of
eccrine
sweat
glands
,
hair
,
and
teeth
.
The
X-
linked
form
of
the
disease
,
caused
by
mutations
in
the
EDA
gene
,
represents
the
majority
of
patients
with
the
hypohidrotic
form
.
Autosomal
dominant
and
autosomal
recessive
forms
are
occasionally
seen
,
and
result
from
mutations
in
at
least
three
genes
(
WNT
10
A
,
EDAR
,
or
more
rarely
EDARADD
)
.
We
have
screened
for
mutations
in
EDAR
(
commonly
involved
in
the
hypohidrotic
form
)
and
WNT
10
A
(
involved
in
a
wide
spectrum
of
ED
and
in
isolated
hypodontia
)
in
a
cohort
of
36
patients
referred
for
EDA
molecular
screening
,
which
failed
to
identify
any
mutation
.
We
identified
eight
EDAR
mutations
in
five
patients
(
two
with
homozygous
mutations
,
one
with
compound
heterozygous
mutations
,
and
two
with
heterozygous
mutation
)
,
four
of
which
were
novel
variants
.
We
identified
28
WNT
10
A
mutations
in
16
patients
(
5
with
homozygous
mutations
,
7
with
compound
heterozygous
mutations
,
and
4
with
heterozygous
mutations
)
,
seven
of
which
were
novel
variants
.
Our
study
allows
a
more
precise
definition
of
the
phenotypic
spectrum
associated
with
EDAR
and
WNT
10
A
mutations
and
underlines
the
importance
of
the
implication
of
WNT
10
A
among
patients
with
ED
.
Diseases
Validation
Diseases presenting
"represents the majority of patients with the hypohidrotic form"
symptom
oligodontia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom