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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 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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