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Rational diagnostic strategy for Zellweger syndrome spectrum patients.
[zellweger syndrome]
Zellweger
syndrome
spectrum
(
ZSS
)
comprises
a
clinically
and
genetically
heterogeneous
disease
entity
,
which
is
caused
by
mutations
in
any
of
the
12
different
human
PEX
genes
leading
to
impaired
biogenesis
of
the
peroxisome
.
Patients
potentially
suffering
from
ZSS
are
diagnosed
biochemically
by
measuring
elevated
levels
of
very
long
chain
fatty
acids
,
pristanic
acid
and
phytanic
acid
in
plasma
and
serum
and
reduced
levels
of
ether
phospholipids
in
erythrocytes
.
Published
reports
on
diagnostic
procedures
for
ZSS
patients
are
restricted
either
to
biochemical
markers
or
to
defined
mutations
in
a
subset
of
PEX
genes
.
Clarification
of
the
primary
genetic
defect
in
an
affected
patient
is
crucial
for
genetic
counselling
,
carrier
testing
or
prenatal
diagnosis
.
In
this
study
,
we
present
a
rational
diagnostic
strategy
for
patients
suspected
of
ZSS
.
By
combining
cell
biology
and
molecular
genetic
methods
in
an
appropriate
sequence
,
we
were
able
to
detect
the
underlying
mutation
in
various
PEX
genes
within
adequate
time
and
cost
.
We
applied
this
method
on
90
patients
who
presented
at
our
institute
,
Department
of
Pediatrics
and
Pediatric
Neurology
at
Georg
August
University
,
and
detected
174
mutant
alleles
within
six
different
PEX
genes
,
including
two
novel
deletions
and
three
new
missense
mutations
in
PEX
6
.
Furthermore
,
this
strategy
will
extend
our
knowledge
on
genotype-phenotype
correlation
in
various
PEX
genes
.
It
will
contribute
to
a
better
understanding
of
ZSS
pathogenesis
,
allowing
the
investigation
of
the
effects
of
diverse
mutations
on
the
interaction
between
PEX
proteins
and
peroxisomal
function
in
vivo
.
Diseases
Validation
Diseases presenting
"pristanic acid and phytanic acid in plasma and serum and reduced levels of ether phospholipids in erythrocytes"
symptom
zellweger syndrome
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