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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
[holt-oram syndrome]
Holt-
Oram
syndrome
(
HOS
)
is
an
autosomal
dominant
heart
-
hand
syndrome
characterized
by
congenital
heart
disease
(
CHD
)
and
upper
limb
deformity
,
and
caused
by
mutations
in
the
TBX
5
gene
.
To
date
,
the
sensitivity
of
TBX
5
genetic
testing
for
HOS
has
been
unclear
.
We
now
report
mutational
analyses
of
a
nongenetically
selected
population
of
54
unrelated
individuals
who
were
consecutively
referred
to
our
center
with
a
clinical
diagnosis
of
HOS
.
TBX
5
mutational
analyses
were
performed
in
all
individuals
,
and
clinical
histories
and
findings
were
reviewed
for
each
patient
without
reference
to
the
genotypes
.
Twenty
-
six
percent
of
the
complete
cohort
was
shown
to
have
mutations
of
the
TBX
5
gene
.
However
,
among
those
subjects
for
whom
clinical
review
demonstrated
that
their
presentations
met
strict
diagnostic
criteria
for
HOS
,
TBX
5
mutations
were
identified
in
74
%
.
No
mutations
were
identified
in
those
subjects
who
did
not
meet
these
criteria
.
Thus
,
these
studies
validate
our
clinical
diagnostic
criteria
for
HOS
including
an
absolute
requirement
for
preaxial
radial
ray
upper
limb
malformation
.
Accordingly
,
TBX
5
genotyping
has
high
sensitivity
and
specificity
for
HOS
if
stringent
diagnostic
criteria
are
used
in
assigning
the
clinical
diagnosis
.
Diseases
Validation
Diseases presenting
"selected population of 54 unrelated individuals"
symptom
holt-oram syndrome
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