Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
ENU induced mutations causing congenital cardiovascular anomalies.
[holt-oram syndrome]
We
used
non-invasive
high
frequency
ultrasound
to
screen
N-
ethyl-
N-
nitrosourea
mutagenized
mouse
fetuses
for
congenital
cardiovascular
anomalies
.
We
ultrasound
scanned
7546
mouse
fetuses
from
262
mutagenized
families
,
and
identified
124
families
with
cardiovascular
defects
.
Represented
were
most
of
the
major
congenital
cardiovascular
anomalies
seen
clinically
.
The
ENU-induced
mutations
in
several
families
were
mapped
using
polymorphic
microsatellite
DNA
markers
.
One
family
with
forelimb
anomalies
and
ventricular
septal
defects
,
phenotypes
similar
to
Holt-
Oram
syndrome
,
and
one
family
with
transposition
of
the
great
arteries
and
heart
situs
anomalies
were
mapped
to
different
regions
of
mouse
chromosome
4
.
A
third
mutation
causing
persistent
truncus
arteriosus
and
craniofacial
defects
,
phenotypes
reminiscent
of
DiGeorge
syndrome
,
was
mapped
to
mouse
chromosome
2
.
We
note
that
mouse
chromosomes
4
and
2
do
not
contain
Tbx
5
or
Tbx
1
,
genes
previously
linked
to
Holt
-
Oram
and
DiGeorge
syndromes
,
respectively
.
In
two
other
families
,
the
ENU-induced
mutation
was
identified--
Sema
3
CL
605
P
was
associated
with
persistent
truncus
arteriosus
with
interrupted
aortic
arch
,
and
the
Gja
1
W
45
X
connexin
43
mutation
caused
conotruncal
malformation
and
coronary
aneurysms
.
Although
our
screen
was
designed
as
a
recessive
screen
,
a
number
of
the
mutations
showed
cardiovascular
phenotypes
in
both
heterozygote
and
homozygote
animals
.
These
studies
show
the
efficacy
of
ENU
mutagenesis
and
high
-throughput
ultrasound
phenotyping
in
recovering
mutations
causing
a
wide
spectrum
of
congenital
heart
defects
.
These
ENU-induced
mutations
hold
promise
in
yielding
new
insights
into
the
genetic
basis
for
human
congenital
heart
disease
.
Diseases
Validation
Diseases presenting
"transposition of the great arteries"
symptom
holt-oram syndrome
This symptom has already been validated