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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
"white matter"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
cushing syndrome
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
krabbe disease
neonatal adrenoleukodystrophy
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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