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Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
is
caused
by
a
defective
peroxisomal
membrane
transporter
,
ABCD
1
,
responsible
for
transporting
very
-
long
-chain
fatty
acid
substrate
into
peroxisomes
for
degradation
.
The
main
biochemical
defect
,
which
is
also
one
of
the
major
diagnostic
hallmarks
,
of
X-
linked
adrenoleukodystrophy
is
the
accumulation
of
saturated
very
-
long
-chain
fatty
acids
in
all
tissues
and
body
fluids
.
Direct
and
reverse-transcribed
polymerase
chain
reactions
followed
by
DNA
sequencing-based
mutational
analyses
were
performed
on
one
Taiwanese
and
three
Malaysian
X-
linked
adrenoleukodystrophy
families
.
A
novel
splicing
donor
site
mutation
(
c
.
1272
+
1
g
>
a
)
was
identified
in
a
Taiwanese
X-
linked
adrenoleukodystrophy
patient
,
resulting
in
a
deletion
of
121
bp
and
a
premature
stop
codon
(
p
.
Val
425
fs
*
92
)
in
messenger-
RNA
transcript
.
This
deletion
is
caused
by
the
activation
of
a
cryptic
splicing
donor
site
in
exon
4
of
the
ABCD
1
gene
,
which
is
consistent
with
the
prediction
by
several
online
algorithms
.
In
addition
,
three
previously
described
missense
mutations
(
c
.
965
T
>
C
,
c
.
1978
C
>
T
,
and
c
.
2006
A
>
G
)
,
leading
to
aberrant
ABCD
1
of
p
.
Leu
322
Pro
,
p
.
Arg
660
Trp
,
and
p
.
His
669
Arg
,
were
also
identified
in
Malaysian
probands
.
This
is
the
first
report
to
unveil
unequivocally
that
cryptic
splicing-induced
aberrant
messenger-
RNA
carrying
an
internal
frameshift
deletion
results
from
an
intronic
mutation
in
the
ABCD
1
gene
.
Furthermore
,
a
polymorphism
in
intron
9
(
c
.
1992
-
32
c
/
t
;
refSNP
:
rs
4898368
)
of
the
ABCD
1
gene
was
commonly
observed
in
both
Taiwanese
and
Malaysian
populations
.
Diseases
Validation
Diseases presenting
"premature stop codon"
symptom
aromatase deficiency
cadasil
classical phenylketonuria
cohen syndrome
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
triple a syndrome
x-linked adrenoleukodystrophy
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