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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
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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