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Mutation in myosin heavy chain 6 causes atrial septal defect.
[holt-oram syndrome]
Atrial
septal
defect
is
one
of
the
most
common
forms
of
congenital
heart
malformation
.
We
identified
a
new
locus
linked
with
atrial
septal
defect
on
chromosome
14
q
12
in
a
large
family
with
dominantly
inherited
atrial
septal
defect
.
The
underlying
mutation
is
a
missense
substitution
,
I
820
N
,
in
alpha-myosin
heavy
chain
(
MYH
6
)
,
a
structural
protein
expressed
at
high
levels
in
the
developing
atria
,
which
affects
the
binding
of
the
heavy
chain
to
its
regulatory
light
chain
.
The
cardiac
transcription
factor
TBX
5
strongly
regulates
expression
of
MYH
6
,
but
mutant
forms
of
TBX
5
,
which
cause
Holt-
Oram
syndrome
,
do
not
.
Morpholino
knock-down
of
expression
of
the
chick
MYH
6
homolog
eliminates
the
formation
of
the
atrial
septum
without
overtly
affecting
atrial
chamber
formation
.
These
data
provide
evidence
for
a
link
between
a
transcription
factor
,
a
structural
protein
and
congenital
heart
disease
.
Diseases
Validation
Diseases presenting
"atrial septal defect on chromosome"
symptom
holt-oram syndrome
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