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Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
[alexander disease]
Alexander
disease
(
AxD
)
is
a
usually
fatal
astrogliopathy
primarily
caused
by
mutations
in
the
gene
encoding
glial
fibrillary
acidic
protein
(
GFAP
)
,
an
intermediate
filament
protein
expressed
in
astrocytes
.
We
describe
three
patients
with
unique
characteristics
,
and
whose
mutations
have
implications
for
AxD
diagnosis
and
studies
of
intermediate
filaments
.
Patient
1
is
the
first
reported
case
with
a
noncoding
mutation
.
The
patient
has
a
splice
site
change
producing
an
in
-frame
deletion
of
exon
4
in
about
10
%
of
the
transcripts
.
Patient
2
has
an
insertion
and
deletion
at
the
extreme
end
of
the
coding
region
,
resulting
in
a
short
frameshift
.
In
addition
,
the
mutation
was
found
in
buccal
DNA
but
not
in
blood
DNA
,
making
this
patient
the
first
reported
chimera
.
Patient
3
has
a
single
-base
deletion
near
the
C-
terminal
end
of
the
protein
,
producing
a
short
frameshift
.
These
findings
recommend
inclusion
of
intronic
splice
site
regions
in
genetic
testing
for
AxD
,
indicate
that
alteration
of
only
a
small
fraction
of
GFAP
can
produce
disease
,
and
provide
caution
against
tagging
intermediate
filaments
at
their
C-
terminal
end
for
cell
biological
investigations
.
Diseases
Validation
Diseases presenting
"first reported case"
symptom
achondroplasia
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
aniridia
cutaneous mastocytosis
dedifferentiated liposarcoma
epidermolysis bullosa simplex
fabry disease
focal myositis
harlequin ichthyosis
heparin-induced thrombocytopenia
kabuki syndrome
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
thoracic outlet syndrome
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
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