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Novel TBX5 mutations in patients with Holt-Oram syndrome.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
MIM
#
142900
)
is
an
autosomal-dominant
disorder
characterized
by
radial
ray
deformities
of
the
upper
limb
associated
with
cardiac
septation
and
/
or
conduction
defects
.
The
disorder
is
caused
by
mutations
in
the
transcription
factor
TBX
5
.
Several
studies
report
a
rather
low
detection
rate
(
range
,
22
-
35
%
)
of
TBX
5
mutations
in
patients
with
a
clinical
suspicion
of
Holt-
Oram
syndrome
.
The
low
detection
rate
is
attributed
to
clinical
misdiagnosis
and
genetic
heterogeneity
.
However
,
a
detection
rate
up
to
74
%
has
been
reported
when
strict
inclusion
criteria
for
Holt-
Oram
syndrome
are
applied
before
genetic
testing
.
We
performed
mutational
analysis
in
a
cohort
of
27
unrelated
patients
referred
with
a
clinical
diagnosis
of
Holt-
Oram
syndrome
.
Seven
TBX
5
mutations
were
detected
by
direct
sequencing
.
The
detection
rate
of
TBX
5
mutations
in
this
co
hort
of
patients
was
25
.
9
%
but
increased
to
54
%
when
the
strict
phenotypical
criteria
were
applied
.
No
mutations
were
found
in
patients
who
did
not
meet
these
strict
phenotypical
criteria
.
Interestingly
,
we
were
unable
to
identify
a
TBX
5
mutation
in
six
of
13
patients
who
did
meet
the
strict
criteria
.
This
study
confirms
TBX
5
genetic
testing
should
be
reserved
for
patients
who
fulfill
the
strict
phenotypic
criteria
for
Holt-
Oram
syndrome
.