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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
"heart disease"
symptom
22q11.2 deletion syndrome
achondroplasia
acute rheumatic fever
adrenal incidentaloma
child syndrome
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
dentinogenesis imperfecta
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
omenn syndrome
phenylketonuria
sneddon syndrome
systemic capillary leak syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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