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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
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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