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Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.
[oligodontia]
Oculodentodigital
dysplasia
(
ODDD
)
is
a
clinically
variable
genetic
disorder
caused
by
mutations
of
the
GJA
1
gene
,
predominantly
inherited
in
an
autosomal
dominant
fashion
.
In
rare
cases
ODDD
can
also
exhibit
autosomal
recessive
mode
of
inheritance
.
The
phenotype
of
ODDD
comprises
craniofacial
(
short
and
narrow
palpebral
fissure
,
thin
,
narrow
nose
with
hypoplastic
alae
nasi
)
,
dental
(
oligodontia
,
hypoplastic
enamel
)
,
and
digital
abnormalities
(
syndactyly
of
finger
4
/
5
,
hypoplastic
phalanges
)
.
Ocular
manifestation
is
typical
and
involves
microphthalmia
,
microcornea
,
glaucoma
,
congenital
malformations
of
iris
or
vitreous
,
ectopic
pupils
or
strabismus
.
To
date
,
only
67
GJA
1
mutations
have
been
described
to
underlie
ODDD
and
most
of
them
(
i
.
e
.
97
%
)
represent
missense
substitutions
.
In
this
report
,
we
describe
three
(
two
familial
and
one
sporadic
)
non-consanguineous
cases
presenting
with
ODDD
features
in
whom
we
identified
novel
missense
heterozygous
mutations
of
the
GJA
1
gene
:
c
.
317
T
>
G
(
p
.
L
106
R
)
,
c
.
G
139
C
(
p
.
D
47
H
)
,
and
c
.
C
2
57
A
(
p
.
S
86
Y
)
.
The
first
two
mutations
were
inherited
from
an
affected
parent
,
whereas
the
latter
one
occurred
de
novo
.
The
mutations
affect
highly
conserved
amino
acid
residues
located
in
the
different
portions
of
the
GJA
1
protein
.
Our
report
broadens
the
spectrum
of
probably
pathogenic
mutations
associated
with
ODDD
phenotype
and
demonstrates
that
the
amino
acid
substitutions
at
highly
conserved
positions
47
,
86
,
106
may
affect
protein
functioning
and
lead
to
the
development
of
this
syndrome
.
Together
with
molecular
data
,
we
provide
a
brief
clinical
description
of
the
affected
individuals
.
Diseases
Validation
Diseases presenting
"probably pathogenic mutations"
symptom
oligodontia
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