Rare Diseases Symptoms Automatic Extraction
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An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease.
[hirschsprung disease]
A
deletion
encompassing
several
SOX
10
enhancers
was
recently
identified
in
a
patient
presenting
with
Waardenburg
syndrome
type
4
(
WS
4
)
,
which
is
defined
as
a
combination
of
Hirschsprung
disease
(
HSCR
,
intestinal
aganglionosis
)
and
WS
(
deafness
and
pigmentation
defects
)
.
The
expression
patterns
of
some
of
the
known
SOX
10
enhancers
in
animal
models
led
to
the
speculation
that
endophenotypes
of
WS
4
may
be
linked
to
mutations
within
some
of
these
sequences
.
The
present
study
investigated
deletions
and
point
mutations
within
four
SOX
10
enhancers
in
144
unexplained
isolated
HSCR
cases
.
One
deletion
and
two
point
mutations
affecting
binding
sites
for
known
neural
crest
transcription
factors
were
identified
.
In
vitro
functional
analysis
revealed
that
the
first
point
mutation
disrupts
autoregulation
by
SOX
10
,
whereas
the
second
affects
AP
2
a
and
SOX
10
synergistic
activity
.
The
present
findings
suggest
that
the
mutations
within
SOX
10
enhancers
contribute
to
isolated
HSCR
.
Diseases
Validation
Diseases presenting
"pigmentation defects"
symptom
hirschsprung disease
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