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TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
[holt-oram syndrome]
The
T
-
box
transcription
factor
Tbx
5
is
important
in
mammalian
cardiac
development
.
Mutations
in
the
human
TBX
5
gene
cause
Holt-
Oram
syndrome
(
HOS
)
,
a
disorder
characterized
by
heart
and
upper
limb
deformities
.
To
determine
the
role
of
TBX
5
in
non-
HOS
patients
with
complex
cardiac
malformations
,
we
analyzed
68
explanted
hearts
from
unrelated
patients
with
various
cardiac
abnormalities
including
atrial
(
ASD
)
,
ventricular
(
VSD
)
and
atrioventricular
septal
defects
(
AVSD
)
.
Direct
sequencing
detected
nine
mutations
in
diseased
cardiac
tissues
of
patients
,
eight
of
which
are
novel
.
Six
mutations
would
affect
amino
acids
in
the
T
-
domain
,
and
one
(
c
.
236
C
>
T
,
p
.
Ala
79
V
al
)
is
within
the
recently
identified
nuclear
localization
signal
(
NLS
1
)
region
.
Further
,
mutations
were
found
in
patients
with
ASD
and
AVSD
,
but
not
with
VSD
;
and
mutations
were
absent
in
normal
heart
tissue
of
same
patients
,
thus
indicating
somatic
origin
.
Our
results
suggest
a
possible
role
of
somatically
occurring
TBX
5
mutations
in
congenital
heart
disease
.
We
show
for
the
first
time
TBX
5
mutations
in
non-
HOS
associated
cardiac
malformations
and
we
identified
a
novel
missense
mutation
that
would
impact
nuclear
localization
of
TBX
5
.
Diseases
Validation
Diseases presenting
"heart tissue"
symptom
holt-oram syndrome
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