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Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
recessive
neurodegenerative
disorder
that
affects
the
brain
's
white
matter
and
is
associated
with
adrenal
insufficiency
.
It
is
characterized
by
an
abnormal
function
of
the
peroxisomes
,
which
leads
to
an
accumulation
of
very
long
-chain
fatty
acids
(
VLCFA
)
in
plasma
and
tissues
,
especially
in
the
cortex
of
the
adrenal
glands
and
the
white
matter
of
the
central
nervous
system
,
causing
demyelinating
disease
and
adrenocortical
insufficiency
(
Addison
's
disease
)
.
X-
ALD
is
caused
by
a
mutation
in
the
ABCD
1
gene
(
ATP-binding
cassette
,
subfamily
D
,
member
1
)
,
which
encodes
the
adrenoleukodystrophy
protein
involved
in
the
transport
of
fatty
acids
into
the
peroxisome
for
degradation
.
We
report
here
a
disease-related
variant
in
the
ABCD
1
gene
in
a
19
-
year
-old
Tunisian
boy
with
childhood
cerebral
adrenoleukodystrophy
.
The
diagnosis
was
based
on
clinical
symptoms
,
high
levels
of
VLCFA
in
plasma
,
typical
MRI
pattern
and
molecular
analysis
.
Molecular
analysis
by
direct
sequencing
of
the
ABCD
1
gene
showed
the
presence
of
a
novel
missense
mutation
c
.
284
C
>
A
(
p
.
Ala
95
A
sp
)
occurring
in
the
transmembrane
domain
in
the
proband
,
his
mother
and
his
sister
.
Using
bioinformatic
tools
we
suggest
that
this
novel
variant
may
have
deleterious
effects
on
adrenoleukodystrophy
protein
structure
and
function
.
Diseases
Validation
Diseases presenting
"the white matter of the central nervous system"
symptom
x-linked adrenoleukodystrophy
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