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sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth.
[holt-oram syndrome]
Okihiro
syndrome
(
OS
)
is
defined
by
forelimb
defects
associated
with
the
eye
disorder
Duane
anomaly
and
results
from
mutations
in
the
gene
SALL
4
.
Forelimb
defects
in
individuals
with
OS
range
from
subtle
thumb
abnormalities
to
truncated
limbs
.
Mutations
in
the
T
-
box
transcription
factor
TBX
5
cause
Holt-
Oram
syndrome
(
HOS
)
,
which
results
in
forelimb
and
heart
defects
.
Although
mutations
in
TBX
5
result
in
HOS
,
it
has
been
predicted
that
these
mutations
account
for
only
approximately
30
%
of
all
individuals
with
HOS
.
Individuals
with
OS
and
HOS
limb
defects
are
very
similar
,
in
fact
,
individuals
with
mutations
in
SALL
4
have
in
some
cases
previously
been
diagnosed
with
HOS
.
Using
zebrafish
as
a
model
,
we
have
investigated
the
function
of
sall
4
and
the
relationship
between
sall
4
and
tbx
5
,
during
forelimb
development
.
We
demonstrate
that
sall
4
and
a
related
gene
sall
1
act
downstream
of
tbx
5
and
are
required
for
pectoral
fin
development
.
Our
studies
of
Sall
gene
family
redundancy
and
tbx
5
offer
explanations
for
the
similarity
of
individuals
with
OS
and
HOS
limb
defects
.