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Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome.
[holt-oram syndrome]
The
Holt-
Oram
syndrome
(
HOS
)
is
an
autosomal
dominant
condition
characterized
by
upper
limb
and
cardiac
malformations
.
Mutations
in
the
TBX
5
gene
cause
HOS
and
have
also
been
associated
with
isolated
heart
and
arm
defects
.
Interactions
between
the
TBX
5
,
GATA
4
and
NKX
2
.
5
proteins
have
been
reported
in
humans
.
We
screened
the
TBX
5
,
GATA
4
,
and
NKX
2
.
5
genes
for
mutations
,
by
direct
sequencing
,
in
32
unrelated
patients
presenting
classical
(
8
)
or
atypical
HOS
(
1
)
,
isolated
congenital
heart
defects
(
16
)
or
isolated
upper
-
limb
malformations
(
7
)
.
Pathogenic
mutations
in
the
TBX
5
gene
were
found
in
four
HOS
patients
,
including
two
new
mutations
(
c
.
374
delG
;
c
.
678
G
>
T
)
in
typical
patients
,
and
the
hotspot
mutation
c
.
835
C
>
T
in
two
patients
,
one
of
them
with
an
atypical
HOS
phenotype
involving
lower-
limb
malformations
.
Two
new
mutations
in
the
GATA
4
gene
were
found
in
association
with
isolated
upper
-
limb
malformations
,
but
their
clinical
significance
remains
to
be
established
.
A
previously
described
possibly
pathogenic
mutation
in
the
NKX
2
.
5
gene
(
c
.
73
C
>
7
)
was
detected
in
a
patient
with
isolated
heart
malformations
and
also
in
his
clinically
normal
father
.
Diseases
Validation
Diseases presenting
"isolated upper-limb malformations, but their clinical significance"
symptom
holt-oram syndrome
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