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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
[zellweger syndrome]
Zellweger
syndrome
spectrum
disorders
are
caused
by
mutations
in
any
of
at
least
12
different
PEX
genes
.
This
includes
PEX
16
,
which
encodes
an
integral
peroxisomal
membrane
protein
involved
in
peroxisomal
membrane
assembly
.
PEX
16
-
defective
patients
have
been
reported
to
have
a
severe
clinical
presentation
.
Fibroblasts
from
these
patients
displayed
a
defect
in
the
import
of
peroxisomal
matrix
and
membrane
proteins
,
resulting
in
a
total
absence
of
peroxisomal
remnants
.
To
report
on
six
patients
with
an
unexpected
mild
variant
peroxisome
biogenesis
disorder
due
to
mutations
in
the
PEX
16
gene
.
Patients
presented
in
the
preschool
years
with
progressive
spastic
paraparesis
and
ataxia
(
with
a
characteristic
pattern
of
progressive
leucodystrophy
and
brain
atrophy
on
MRI
scan
)
and
later
developed
cataracts
and
peripheral
neuropathy
.
Surprisingly
,
their
fibroblasts
showed
enlarged
,
import-competent
peroxisomes
.
Plasma
analysis
revealed
biochemical
abnormalities
suggesting
a
peroxisomal
disorder
.
Biochemical
variables
in
fibroblasts
were
only
mildly
abnormal
or
within
the
normal
range
.
Immunofluorescence
microscopy
revealed
the
presence
of
import-competent
peroxisomes
,
which
were
increased
in
size
but
reduced
in
number
.
Subsequent
sequencing
of
all
known
PEX
genes
revealed
five
novel
apparent
homozygous
mutations
in
the
PEX
16
gene
.
An
unusual
variant
peroxisome
biogenesis
disorder
caused
by
mutations
in
the
PEX
16
gene
,
with
a
relatively
mild
clinical
phenotype
and
an
unexpected
phenotype
in
fibroblasts
,
was
identified
.
Although
PEX
16
is
involved
in
peroxisomal
membrane
assembly
,
PEX
16
defects
can
present
with
enlarged
import-competent
peroxisomes
in
fibroblasts
.
This
is
important
for
future
diagnostics
of
patients
with
a
peroxisomal
disorder
.
Diseases
Validation
Diseases presenting
"pex16 defects"
symptom
zellweger syndrome
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