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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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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