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Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes.
[adrenomyeloneuropathy]
Adrenoleukodystrophy
(
ALD
)
is
an
X-
linked
disorder
affecting
primarily
the
white
matter
of
the
central
nervous
system
occasionally
accompanied
by
adrenal
insufficiency
.
Despite
the
discovery
of
the
causative
gene
,
ABCD
1
,
no
clear
genotype-phenotype
correlations
have
been
established
.
Association
studies
based
on
single
nucleotide
polymorphisms
(
SNPs
)
identified
by
comprehensive
resequencing
of
genes
related
to
ABCD
1
may
reveal
genes
modifying
ALD
phenotypes
.
We
analyzed
40
Japanese
patients
with
ALD
.
ABCD
1
and
ABCD
2
were
analyzed
using
a
newly
developed
microarray-based
resequencing
system
.
ABCD
3
and
ABCD
4
were
analyzed
by
direct
nucleotide
sequence
analysis
.
Replication
studies
were
conducted
on
an
independent
French
ALD
cohort
with
extreme
phenotypes
.
All
the
mutations
of
ABCD
1
were
identified
,
and
there
was
no
correlation
between
the
genotypes
and
phenotypes
of
ALD
.
SNPs
identified
by
the
comprehensive
resequencing
of
ABCD
2
,
ABCD
3
,
and
ABCD
4
were
used
for
association
studies
.
There
were
no
significant
associations
between
these
SNPs
and
ALD
phenotypes
,
except
for
the
five
SNPs
of
ABCD
4
,
which
are
in
complete
disequilibrium
in
the
Japanese
population
.
These
five
SNPs
were
significantly
less
frequently
represented
in
patients
with
adrenomyeloneuropathy
(
AMN
)
than
in
controls
in
the
Japanese
population
(
p
=
0
.
0468
)
,
whereas
there
were
no
significant
differences
in
patients
with
childhood
cerebral
ALD
(
CCALD
)
.
The
replication
study
employing
these
five
SNPs
on
an
independent
French
ALD
cohort
,
however
,
showed
no
significant
associations
with
CCALD
or
pure
AMN
.
This
study
showed
that
ABCD
2
,
ABCD
3
,
and
ABCD
4
are
less
likely
the
disease-modifying
genes
,
necessitating
further
studies
to
identify
genes
modifying
ALD
phenotypes
.
Diseases
Validation
Diseases presenting
"central nervous system"
symptom
22q11.2 deletion syndrome
adrenomyeloneuropathy
alexander disease
aniridia
aromatase deficiency
canavan disease
child syndrome
classical phenylketonuria
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
phenylketonuria
proteus syndrome
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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