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Genetics and molecular basis of human peroxisome biogenesis disorders.
[zellweger syndrome]
Human
peroxisome
biogenesis
disorders
(
PBDs
)
are
a
heterogeneous
group
of
autosomal
recessive
disorders
comprised
of
two
clinically
distinct
subtypes
:
the
Zellweger
syndrome
spectrum
(
ZSS
)
disorders
and
rhizomelic
chondrodysplasia
punctata
(
RCDP
)
type
1
.
PBDs
are
caused
by
defects
in
any
of
at
least
14
different
PEX
genes
,
which
encode
proteins
involved
in
peroxisome
assembly
and
proliferation
.
Thirteen
of
these
genes
are
associated
with
ZSS
disorders
.
The
genetic
heterogeneity
among
PBDs
and
the
inability
to
predict
from
the
biochemical
and
clinical
phenotype
of
a
patient
with
ZSS
which
of
the
currently
known
13
PEX
genes
is
defective
,
has
fostered
the
development
of
different
strategies
to
identify
the
causative
gene
defects
.
These
include
PEX
cDNA
transfection
complementation
assays
followed
by
sequencing
of
the
thus
identified
PEX
genes
,
and
a
PEX
gene
screen
in
which
the
most
frequently
mutated
exons
of
the
different
PEX
genes
are
analyzed
.
The
benefits
of
DNA
testing
for
PBDs
include
carrier
testing
of
relatives
,
early
prenatal
testing
or
preimplantation
genetic
diagnosis
in
families
with
a
recurrence
risk
for
ZSS
disorders
,
and
insight
in
genotype-phenotype
correlations
,
which
may
eventually
assist
to
improve
patient
management
.
In
this
review
we
describe
the
current
status
of
genetic
analysis
and
the
molecular
basis
of
PBDs
.
