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Holt-Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: functional characterization of a de novo TBX5 mutation.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
HOS
)
is
a
rare
autosomal
dominant
disorder
characterized
by
upper
limb
defects
and
congenital
heart
defects
(
CHD
)
,
which
are
often
simple
septal
and
conduction
defects
,
less
frequently
complex
CHDs
.
We
report
on
a
9
year
-old
boy
with
clinical
and
radiologic
features
of
HOS
consisting
of
bilateral
asymmetric
hypoplastic
thumbs
,
generalized
brachydactyly
,
limited
supination
due
to
radioulnar
synostosis
,
and
sloping
shoulders
,
and
intermediate
atrioventricular
canal
defect
(
AVCD
)
with
aortic
coarctation
.
A
de
novo
,
previously
described
mutation
,
(
Arg
279
ter
)
was
identified
in
the
TBX
5
gene
.
Molecular
characterization
of
this
mutation
was
carried
out
due
to
the
atypical
CHD
.
In
order
to
investigate
whether
the
mutated
transcript
of
TBX
5
was
able
to
escape
the
post-transcriptional
surveillance
mechanism
and
to
produce
a
truncated
TBX
5
protein
,
we
analyzed
the
TBX
5
transcript
,
and
protein
pattern
in
HOS
,
and
WT
cardiac
tissues
.
Our
results
demonstrate
that
the
mutant
TBX
5
transcript
is
cleared
by
the
cellular
mechanism
of
surveillance
.
This
data
provides
some
support
for
the
hypothesis
that
a
dominant
negative
mutation
,
which
strongly
impairs
the
WT
allele
,
might
be
too
hazardous
to
be
maintained
.
The
literature
suggests
that
HOS
is
relatively
common
among
syndromes
associated
with
AVCD
.
Diseases
Validation
Diseases presenting
"previously described mutation"
symptom
holt-oram syndrome
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