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ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
[adrenomyeloneuropathy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
neurodegenerative
disorder
resulting
from
mutations
within
the
ABCD
1
gene
.
Adrenomyeloneuropathy
(
AMN
)
and
childhood
cerebral
ALD
(
CCALD
)
are
most
common
phenotypes
in
the
Western
ALD
patients
.
Here
we
performed
mutation
analysis
of
ABCD
1
in
10
Chinese
ALD
families
and
identified
8
mutations
,
including
one
novel
deletion
(
c
.
1477
_
1488
+
11
del
23
)
and
7
known
mutations
.
Mutations
c
.
1772
G
>
A
and
c
.
1816
T
>
C
were
first
reported
in
the
Chinese
patients
.
Mutations
c
.
1661
G
>
A
and
c
.
1679
C
>
T
were
demonstrated
to
be
de
novo
mutations
.
The
dinucleotide
deletion
1415
_
16
delAG
,
described
as
a
mutational
hotspot
in
different
ethnic
groups
,
was
identified
in
two
families
.
In
addition
,
we
performed
a
retrospective
nation-
wide
mutation
study
of
X-
linked
ALD
in
China
based
on
a
literature
review
.
The
retrospective
study
further
confirmed
the
hypothesis
that
exon
6
is
a
potential
mutation
cluster
region
in
the
Asian
populations
.
Furthermore
,
it
suggested
that
CCALD
is
the
most
common
phenotype
in
China
.
Diseases
Validation
Diseases presenting
"wide mutation study"
symptom
adrenomyeloneuropathy
x-linked adrenoleukodystrophy
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