Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.
[x-linked adrenoleukodystrophy]
Genetic
heterogeneity
is
common
in
many
Mendelian
disorders
such
as
hereditary
spastic
paraplegia
(
HSP
)
,
which
makes
the
genetic
diagnosis
more
complicated
.
The
goal
of
this
study
was
to
investigate
a
Chinese
family
with
recessive
hereditary
spastic
paraplegia
,
of
which
causative
mutations
could
not
be
identified
using
the
conventional
PCR-based
direct
sequencing
.
Next
-generation
sequencing
of
all
the
transcripts
of
whole
genome
exome
,
after
on-array
hybrid
capture
,
was
performed
on
two
affected
male
subjects
(
the
proband
and
his
brother
)
.
A
missense
mutation
(
c
.
1661
G
>
A
,
p
.
R
554
H
)
was
identified
in
ABCD
1
.
Subsequently
,
PCR-based
direct
sequencing
of
other
family
members
revealed
that
the
mutation
was
co
-segregating
with
the
disease
,
indicating
that
ABCD
1
mutation
was
the
pathogenic
event
for
this
family
.
Very
long
-chain
fatty
acids
(
VLCFA
)
assay
in
the
two
affected
cases
confirmed
X-
ALD
.
Our
study
suggests
exome
sequencing
can
be
used
not
only
to
find
a
novel
causative
gene
,
but
also
to
quickly
identify
mutations
of
known
genes
when
the
clinical
elements
are
etiologically
misleading
.
Diseases
Validation
Diseases presenting
"hereditary spastic paraplegia"
symptom
adrenomyeloneuropathy
cohen syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom