Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing.
[zellweger syndrome]
Autosomal
recessive
Zellweger
spectrum
disorder
(
ZSD
)
,
the
main
subgroup
of
the
peroxisome
biogenesis
disorders
(
PBDs
)
,
can
be
caused
by
mutations
in
any
of
the
13
PEX
genes
.
Zellweger
syndrome
(
ZS
)
is
the
most
common
and
severe
phenotype
in
the
heterogeneous
ZSD
.
For
the
large
number
genes
involved
,
it
is
difficult
to
make
a
precise
genetic
diagnosis
by
traditional
methods
at
a
time
.
A
combination
of
enrichment
of
targeted
genes
and
next
-generation
sequencing
(
NGS
)
would
result
in
both
high
efficiency
and
low
cost
for
targeted
sequencing
of
genes
of
interest
.
To
identify
potential
mutations
in
a
Chinese
family
associated
with
Zellweger
syndrome
,
1930
kb
of
all
the
targeted
region
of
PEX
genes
were
captured
and
sequenced
using
NGS
.
We
also
performed
Sanger
sequencing
to
validate
the
NGS
results
.
Here
,
we
reported
a
Chinese
patient
diagnosed
as
a
severe
classic
type
of
PBD
based
on
a
clinical
investigation
.
We
then
performed
microarray-based
NGS
to
detect
the
variants
in
PEX
genes
of
the
whole
family
.
One
reported
heterozygosis
mutation
(
c
.
782
_
783
delAA
)
was
identified
in
the
patient
's
father
and
one
novel
heterozygosis
missense
mutation
(
c
.
475
G
>
C
)
was
found
in
the
patient
's
mother
,
the
patient
inherited
both
mutations
.
The
results
proved
that
the
application
of
target
sequence
capture
using
chip
and
high
-throughput
NGS
is
a
valuable
tool
for
the
molecular
diagnosis
of
peroxisome
biogenesis
disorders
.
The
accuracy
,
high
-throughput
and
speed
of
the
method
make
it
suitable
for
clinical
application
.
Diseases
Validation
Diseases presenting
"low cost for targeted sequencing of genes of interest"
symptom
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom