Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
[zellweger syndrome]
The
autosomal
recessive
Zellweger
syndrome
spectrum
(
ZSS
)
disorders
comprise
a
main
subgroup
of
the
peroxisome
biogenesis
disorders
and
can
be
caused
by
mutations
in
any
of
12
different
currently
identified
PEX
genes
resulting
in
severe
multisystemic
disorders
.
To
get
insight
into
the
spectrum
of
PEX
gene
defects
among
ZSS
disorders
and
to
investigate
if
additional
human
PEX
genes
are
required
for
functional
peroxisome
biogenesis
,
we
assigned
over
600
ZSS
fibroblast
cell
lines
to
different
genetic
complementation
groups
.
These
fibroblast
cell
lines
were
subjected
to
a
complementation
assay
involving
fusion
by
means
of
polyethylene
glycol
or
a
PEX
cDNA
transfection
assay
specifically
developed
for
this
purpose
.
In
a
majority
of
the
cell
lines
we
subsequently
determined
the
underlying
mutations
by
sequence
analysis
of
the
implicated
PEX
genes
.
The
PEX
cDNA
transfection
assay
allows
for
the
rapid
identification
of
PEX
genes
defective
in
ZSS
patients
.
The
assignment
of
over
600
fibroblast
cell
lines
to
different
genetic
complementation
groups
provides
the
most
comprehensive
and
representative
overview
of
the
frequency
distribution
of
the
different
PEX
gene
defects
.
We
did
not
identify
any
novel
genetic
complementation
group
,
suggesting
that
all
PEX
gene
defects
resulting
in
peroxisome
deficiency
are
currently
known
.