Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.
[22q11.2 deletion syndrome]
Velocardiofacial
(
VCFS
;
22
q
11
.
2
deletion
)
syndrome
is
a
genetic
disorder
that
results
from
a
hemizygous
deletion
of
the
q
11
.
2
region
on
chromosome
22
,
and
is
associated
with
greatly
increased
risk
for
psychiatric
disorders
,
including
autism
spectrum
disorder
(
ASD
)
and
schizophrenia
.
There
is
emerging
evidence
for
the
involvement
of
catechol-
O-
methyltransferase
(
COMT
)
and
proline
dehydrogenase
(
oxidase
)
1
(
PRODH
)
in
the
psychiatric
phenotype
of
individuals
with
VCFS
.
Here
,
we
tested
the
hypothesis
that
PRODH
and
COMT
are
associated
with
ASD
in
youths
with
VCFS
.
We
found
that
individuals
with
VCFS
and
the
low
-activity
alleles
of
both
PRODH
and
COMT
(
rs
48
1975
6
A
and
rs
4680
A
)
were
more
likely
to
present
with
ASD
as
compared
with
individuals
with
VCFS
and
the
high
-activity
alleles
of
these
genes
[
P
<
0
.
05
;
odds
ratio
=
6
.
0
(
95
%
confidence
interval
=
1
.
27
-
28
.
26
;
N
=
87
)
]
.
Our
results
suggest
that
PRODH
and
COMT
may
interact
to
contribute
to
the
ASD
phenotype
in
individuals
with
VCFS
.
Diseases
Validation
Diseases presenting
"schizophrenia"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
cadasil
child syndrome
congenital toxoplasmosis
kabuki syndrome
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
zellweger syndrome
This symptom has already been validated
