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Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
[holt-oram syndrome]
Background
:
Holt-
Oram
syndrome
is
characterised
by
CHD
and
limb
anomalies
.
Mutations
in
TBX
5
gene
,
encoding
the
T
-
box
transcription
factor
,
are
responsible
for
the
development
of
Holt-
Oram
syndrome
,
but
such
mutations
are
variably
detected
in
30
-
75
%
of
patients
.
Methods
:
Clinically
diagnosed
eight
Holt-
Oram
syndrome
patients
from
six
families
were
evaluated
the
clinical
characteristics
,
focusing
on
the
cardiac
manifestations
,
in
particular
,
and
molecular
aetiologies
.
In
addition
to
the
investigation
of
the
mutation
of
TBX
5
,
SALL
4
,
NKX
2
.
5
,
and
GATA
4
genes
,
which
are
known
to
regulate
cardiac
development
by
physically
and
functionally
interacting
with
TBX
5
,
were
also
analyzed
.
Multiple
ligation-dependent
probe
amplification
analysis
was
performed
to
detect
exonic
deletion
and
duplication
mutations
in
these
genes
.
Results
:
All
included
patients
showed
cardiac
septal
defects
and
upper
-
limb
anomalies
.
Of
the
eight
patients
,
seven
underwent
cardiac
surgery
,
and
four
suffered
from
conduction
abnormalities
such
as
severe
sinus
bradycardia
and
complete
atrioventricular
block
.
Although
our
patients
showed
typical
clinical
findings
of
Holt-
Oram
syndrome
,
only
three
distinct
TBX
5
mutations
were
detected
in
three
families
:
one
nonsense
,
one
splicing
,
and
one
missense
mutation
.
No
new
mutations
were
identified
by
testing
SALL
4
,
NKX
2
.
5
,
and
GATA
4
genes
.
Conclusions
:
All
Holt-
Oram
syndrome
patients
in
this
study
showed
cardiac
septal
anomalies
.
Half
of
them
showed
TBX
5
gene
mutations
.
To
understand
the
genetic
causes
for
inherited
CHD
such
as
Holt-
Oram
syndrome
is
helpful
to
take
care
of
the
patients
and
their
families
.
Further
efforts
with
large
-scale
genomic
research
are
required
to
identify
genes
responsible
for
cardiac
manifestations
or
genotype-phenotype
relation
in
Holt-
Oram
syndrome
.
Diseases
Validation
Diseases presenting
"duplication mutations in these genes"
symptom
holt-oram syndrome
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