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Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.
[holt-oram syndrome]
Tetralogy
of
Fallot
(
TOF
)
(
OMIM
#
187500
)
is
the
most
frequent
conotruncal
congenital
heart
defect
(
CHD
)
with
a
range
of
intra-
and
extracardiac
phenotypes
.
TBX
5
is
a
transcription
factor
with
well-defined
roles
in
heart
and
forelimb
development
,
and
mutations
in
TBX
5
are
associated
with
Holt-
Oram
syndrome
(
HOS
)
(
OMIM
#
142900
)
.
Here
we
report
on
the
screening
of
94
TOF
patients
for
mutations
in
TBX
5
,
NKX
2
.
5
and
GATA
4
genes
.
We
identified
two
heterozygous
mutations
in
TBX
5
.
One
mutation
was
detected
in
a
Moroccan
patient
with
TOF
,
a
large
ostium
secundum
atrial
septal
defect
and
complete
atrioventricular
block
,
and
features
of
HOS
including
bilateral
triphalangeal
thumbs
and
fifth
finger
clinodactyly
.
This
patient
carried
a
previously
described
de
novo
,
stop
codon
mutation
(
p
.
R
279
X
)
located
in
exon
8
causing
a
premature
truncated
protein
.
In
a
second
patient
from
Italy
with
TOF
,
ostium
secundum
atrial
septal
defect
and
progressive
arrhythmic
changes
on
ECG
,
we
identified
a
maternally
inherited
novel
mutation
in
exon
9
,
which
caused
a
substitution
of
a
serine
with
a
leucine
at
amino
acid
position
372
(
p
.
S
372
L
,
c
.
1115
C
>
T
)
.
The
mother
's
clinical
evaluation
demonstrated
frequent
ventricular
extrasystoles
and
an
atrial
septal
aneurysm
.
Physical
examination
and
radiographs
of
the
hands
showed
no
apparent
skeletal
defects
in
either
child
or
mother
.
Molecular
evaluation
of
the
p
.
S
372
L
mutation
demonstrated
a
gain-of-function
phenotype
.
We
also
review
the
literature
on
the
co
-occurrence
of
TOF
and
HOS
,
highlighting
its
relevance
.
This
is
the
first
systematic
screening
for
TBX
5
mutations
in
TOF
patients
which
detected
mutations
in
two
of
94
(
2
.
1
%
)
patients
.
©
2014
Wiley
Periodicals
,
Inc
.
Diseases
Validation
Diseases presenting
"frequent conotruncal congenital heart defect"
symptom
holt-oram syndrome
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