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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
Diseases
of
the
Zellweger
spectrum
represent
a
major
subgroup
of
the
peroxisome
biogenesis
disorders
,
a
group
of
autosomal-recessive
diseases
that
are
characterized
by
widespread
tissue
pathology
,
including
neurodegeneration
.
The
Zellweger
spectrum
represents
a
clinical
continuum
,
with
Zellweger
syndrome
(
ZS
)
having
the
most
severe
phenotype
,
and
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
disease
(
IRD
)
having
progressively
milder
phenotypes
.
Mutations
in
the
PEX
1
gene
,
which
encodes
a
143
-
kDa
AAA
ATPase
protein
required
for
peroxisome
biogenesis
,
are
the
most
common
cause
of
the
Zellweger
spectrum
diseases
.
The
PEX
1
mutations
identified
to
date
comprise
insertions
,
deletions
,
nonsense
,
missense
,
and
splice
site
mutations
.
Mutations
that
produce
premature
truncation
codons
(
PTCs
)
are
distributed
throughout
the
PEX
1
gene
,
whereas
the
majority
of
missense
mutations
segregate
with
the
two
essential
AAA
domains
of
the
PEX
1
protein
.
Severity
at
the
two
ends
of
the
Zellweger
spectrum
correlates
broadly
with
mutation
type
and
impact
(
i
.
e
.
,
the
severe
ZS
correlates
with
PTCs
on
both
alleles
,
and
the
milder
phenotypes
correlate
with
missense
mutations
)
,
but
exceptions
to
these
general
correlations
exist
.
This
article
provides
an
overview
of
the
currently
known
PEX
1
mutations
,
and
includes
,
when
necessary
,
revised
mutation
nomenclature
and
genotype-phenotype
correlations
that
may
be
useful
for
clinical
diagnosis
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated