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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
"mutations in the gene encoding glial fibrillary acidic protein"
symptom
alexander disease
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