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[Holt-Oram syndrome: characterization of a novel mutation].
[holt-oram syndrome]
Cardiomyelic
syndromes
encompass
congenital
heart
disease
and
skeletal
malformations
of
the
upper
limbs
and
are
related
to
mutations
in
transcription
factors
with
T
-
Box
domains
.
Holt-
Oram
syndrome
is
caused
by
a
dominant
mutation
in
the
TBX
5
gene
that
alters
the
three
-dimensional
structure
of
the
protein
and
its
DNA
binding
function
.
Several
point
mutations
and
deletions
in
TBX
5
have
been
reported
in
patients
with
the
Holt-
Oram
syndrome
phenotype
.
The
proband
was
a
boy
with
a
large
atrial
septal
defect
ostium
secundum
type
and
a
ventricular
septal
defect
,
diagnosed
by
clinical
findings
(
heart
murmur
)
and
echocardiography
.
He
also
presented
slightly
hypoplastic
thumbs
with
distal
bilateral
placement
and
an
implantation
index
of
0
.
19
(
compared
with
an
average
of
0
.
50
for
his
gestational
age
at
birth
)
.
The
boy
was
referred
to
the
department
of
medical
genetics
to
rule
out
22
q
11
.
2
microdeletion
syndrome
.
Karyotype
and
fluorescence
in
situ
hybridization
at
locus
D
22
S
75
were
both
normal
.
Because
of
his
clinical
findings
,
molecular
study
for
Holt-
Oram
syndrome
was
indicated
,
leading
to
the
finding
of
a
mutation
at
intron
7
of
TBX
5
,
probably
producing
a
splicing
alteration
of
the
gene
and
resulting
in
a
protein
truncated
at
its
C-
terminal
end
.
The
proband
's
parents
presented
the
wild
type
sequence
of
the
gene
,
thus
indicating
that
the
mutation
was
produced
de
novo
,
although
a
possible
germinal
mosaicism
in
the
parents
could
not
be
ruled
out
.
Holt-
Oram
syndrome
is
the
most
frequent
cause
of
cardiomyelic
syndrome
.
All
children
with
heart
malformations
and
abnormalities
of
the
upper
limbs
such
as
absent
,
hypoplastic
,
distally
placed
or
triphalangic
thumbs
should
undergo
molecular
studies
for
this
syndrome
.
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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