Rare Diseases Symptoms Automatic Extraction
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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
"peripheral neuropathy"
symptom
adrenomyeloneuropathy
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated