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Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.
[alexander disease]
Alexander
disease
(
AxD
)
is
an
astrogliopathy
that
primarily
affects
the
white
matter
of
the
central
nervous
system
(
CNS
)
.
AxD
is
caused
by
mutations
in
a
gene
encoding
GFAP
(
glial
fibrillary
acidic
protein
)
.
The
GFAP
mutations
in
AxD
have
been
reported
to
act
in
a
gain-of-function
manner
partly
because
the
identified
mutations
generate
practically
full-length
GFAP
.
We
found
a
novel
nonsense
mutation
(
c
.
1000
 
G
>
T
,
p
.
(
Glu
312
T
er
)
;
also
termed
p
.
(
E
312
*
)
)
within
a
rod
domain
of
GFAP
in
a
67
-
year
-old
Korean
man
with
a
history
of
memory
impairment
and
leukoencephalopathy
.
This
mutation
,
GFAP
p
.
(
E
312
*
)
,
removes
part
of
the
2
B
rod
domain
and
the
whole
tail
domain
from
the
GFAP
.
We
characterized
GFAP
p
.
(
E
312
*
)
using
western
blotting
,
in
vitro
assembly
and
sedimentation
assay
,
and
transient
transfection
of
human
adrenal
cortex
carcinoma
SW
13
(
Vim
(
+
)
)
cells
with
plasmids
encoding
GFAP
p
.
(
E
312
*
)
.
The
GFAP
p
.
(
E
312
*
)
protein
,
either
alone
or
in
combination
with
wild-
type
GFAP
,
elicited
self-aggregation
.
In
addition
,
the
assembled
GFAP
p
.
(
E
312
*
)
aggregated
into
paracrystal-like
structures
,
and
GFAP
p
.
(
E
312
*
)
elicited
more
GFAP
aggregation
than
wild-
type
GFAP
in
the
human
adrenal
cortex
carcinoma
SW
13
(
Vim
(
+
)
)
cells
.
Our
findings
are
the
first
report
,
to
the
best
of
our
knowledge
,
on
this
novel
nonsense
mutation
of
GFAP
that
is
associated
with
AxD
and
paracrystal
formation
.
European
Journal
of
Human
Genetics
advance
online
publication
,
23
April
2014
;
doi
:
10
.
1038
/
ejhg
.
2014
.
68
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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