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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
[holt-oram syndrome]
Okihiro
/
Duane-
radial
ray
syndrome
(
DRRS
)
is
an
autosomal
dominant
condition
characterized
by
radial
ray
defects
and
Duane
anomaly
(
a
form
of
strabismus
)
.
Other
abnormalities
reported
in
this
condition
are
anal
,
renal
,
cardiac
,
ear
,
and
foot
malformations
,
and
hearing
loss
.
The
disease
is
the
result
of
a
mutation
in
the
SALL
4
gene
,
a
human
gene
related
to
the
developmental
regulator
spalt
(
sal
)
of
Drosophila
melanogaster
.
SALL
4
mutations
may
also
cause
acro-
renal
-
ocular
syndrome
(
AROS
)
,
which
differs
from
DRRS
by
the
presence
of
structural
eye
anomalies
,
and
phenotypes
similar
to
thalidomide
embryopathy
and
Holt-
Oram
syndrome
(
HOS
)
.
The
SALL
4
gene
product
is
a
zinc
finger
protein
that
is
thought
to
act
as
a
transcription
factor
.
It
contains
three
highly
conserved
C
2
H
2
double
zinc
finger
domains
,
which
are
evenly
distributed
.
A
single
C
2
H
2
motif
is
attached
to
the
second
domain
,
and
at
the
amino
terminus
SALL
4
contains
a
C
2
HC
motif
.
Seventeen
of
the
22
SALL
4
mutations
known
to
date
(
five
of
which
are
presented
here
for
the
first
time
)
are
located
in
exon
2
,
and
five
are
located
in
exon
3
.
These
are
nonsense
mutations
,
short
duplications
,
and
short
deletions
.
All
of
the
mutations
lead
to
preterminal
stop
codons
and
are
thought
to
cause
the
phenotype
via
haploinsufficiency
.
This
assumption
is
supported
by
the
detection
of
six
larger
deletions
involving
the
whole
gene
or
single
exons
.
This
article
summarizes
the
current
knowledge
about
SALL
4
defects
and
associated
syndromes
,
and
describes
the
clinical
distinctions
with
similar
phenotypes
caused
by
other
gene
defects
.
Diseases
Validation
Diseases presenting
"finger protein"
symptom
esophageal squamous cell carcinoma
holt-oram syndrome
wolf-hirschhorn syndrome
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