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A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.
[adrenomyeloneuropathy]
We
diagnosed
an
adrenomyeloneuropathy
(
AMN
)
patient
with
a
double
novel
missense
mutation
,
c
.
284
C
>
A
(
p
.
A
95
D
)
and
c
.
290
A
>
T
(
p
.
H
97
L
)
in
a
single
ABCD
1
allele
.
In
skin
fibroblasts
from
the
patient
,
no
ABCD
1
protein
was
detected
by
immunoblot
analysis
,
and
the
C
2
4
:
0
β-oxidation
activity
was
decreased
to
a
level
at
which
the
ABCD
1
protein
was
absent
.
To
determine
the
responsible
gene
mutation
in
the
patient
,
we
constructed
three
kinds
of
mutated
ABCD
1
gene
expression
vectors
(
c
.
284
C
>
A
,
c
.
290
A
>
T
or
c
.
284
C
>
A
/
c
.
290
A
>
T
)
and
transfected
them
into
CHO
cells
stably
expressing
GFP-SKL
(
CHO
/
GFP-SKL
cells
)
or
CADDS
fibroblasts
lacking
the
ABCD
1
gene
.
ABCD
1
(
p
.
H
97
L
)
displayed
the
correct
peroxisomal
localization
in
CHO
/
GFP-SKL
cells
,
but
ABCD
1
(
p
.
A
95
D
)
and
ABCD
1
(
p
.
A
95
D
/
p
.
H
97
L
)
were
diffuse
in
the
cytosol
.
Furthermore
,
ABCD
1
(
p
.
H
97
L
)
was
detected
by
immunoblot
analysis
and
restored
the
C
2
4
:
0
β-oxidation
activity
in
the
CADDS
fibroblasts
,
as
the
wild
type
ABCD
1
did
.
On
the
other
hand
,
ABCD
1
(
p
.
A
95
D
)
and
ABCD
1
(
p
.
A
95
D
/
p
.
H
97
L
)
were
not
detected
and
the
C
2
4
:
0
β-oxidation
activity
was
not
restored
.
These
results
clearly
show
that
c
.
284
C
>
A
is
the
responsible
gene
mutation
,
whereas
c
.
290
A
>
T
is
a
novel
polymorphism
.
Diseases
Validation
Diseases presenting
"c"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
coats disease
cohen syndrome
dedifferentiated liposarcoma
epidermolysis bullosa simplex
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kallmann syndrome
oligodontia
papillon-lefèvre syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
von hippel-lindau disease
x-linked adrenoleukodystrophy
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