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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
[hirschsprung disease]
Mowat-
Wilson
syndrome
(
MWS
)
is
a
multiple
congenital
anomaly
syndrome
characterized
by
moderate
or
severe
intellectual
disability
,
a
characteristic
facial
appearance
,
microcephaly
,
epilepsy
,
agenesis
or
hypoplasia
of
the
corpus
callosum
,
congenital
heart
defects
,
Hirschsprung
disease
,
and
urogenital
/
renal
anomalies
.
It
is
caused
by
de
novo
heterozygous
loss
of
function
mutations
including
nonsense
mutations
,
frameshift
mutations
,
and
deletions
in
ZEB
2
at
2
q
22
.
ZEB
2
encodes
the
zinc
finger
E
-
box
binding
homeobox
2
protein
consisting
of
1
,
214
amino
acids
.
Herein
,
we
report
13
nonsense
and
27
frameshift
mutations
from
40
newly
identified
MWS
patients
in
Japan
.
Although
the
clinical
findings
of
all
the
Japanese
MWS
patients
with
nonsense
and
frameshift
mutations
were
quite
similar
to
the
previous
review
reports
of
MWS
caused
by
nonsense
mutations
,
frameshift
mutations
and
deletions
of
ZEB
2
,
the
frequencies
of
microcephaly
,
Hirschsprung
disease
,
and
urogenital
/
renal
anomalies
were
small
.
Patients
harbored
mutations
spanning
the
region
between
the
amino
acids
55
and
1
,
204
in
wild-
type
ZEB
2
.
There
was
no
obvious
genotype-phenotype
correlation
among
the
patients
.
A
transfection
study
demonstrated
that
the
cellular
level
of
the
longest
form
of
the
mutant
ZEB
2
protein
harboring
the
p
.
D
1204
Rfs
*
29
mutation
was
remarkably
low
.
The
results
showed
that
the
3
'
-
end
frameshift
mutation
of
ZEB
2
causes
MWS
due
to
ZEB
2
instability
.
Diseases
Validation
Diseases presenting
"epilepsy"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
cohen syndrome
cowden syndrome
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
pendred syndrome
phenylketonuria
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated