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Identification of a novel PEX14 mutation in Zellweger syndrome.
[zellweger syndrome]
Peroxisome
biogenesis
disorders
are
a
clinically
and
genetically
heterogeneous
group
of
very
severe
autosomal
recessive
disorders
caused
by
impaired
peroxisome
biogenesis
.
The
prototype
of
this
group
of
disorders
is
the
cerebro-hepato-
renal
syndrome
of
Zellweger
.
H
ere
we
report
a
patient
with
Zellweger
syndrome
,
who
presented
at
the
age
of
3
months
with
icterus
,
dystrophy
,
axial
hypotonia
,
facial
dysmorphy
,
posterior
embryotoxon
,
and
hepatomegaly
.
Abnormal
findings
of
metabolic
screening
tests
included
hyperbilirubinaemia
,
hypoketotic
dicarboxylic
aciduria
,
increased
C
(
26
:
0
)
and
decreased
C
(
22
:
0
)
plasma
levels
,
and
strongly
reduced
plasmalogen
concentrations
.
In
fibroblasts
,
both
peroxisomal
alpha-
and
beta
-oxidation
were
impaired
.
Liver
histology
revealed
bile
duct
paucity
,
cholestasis
,
arterial
hyperplasia
,
very
small
branches
of
the
vena
portae
,
and
parenchymatic
destruction
.
Immunocytochemical
analysis
of
cultured
fibroblasts
demonstrated
that
the
cells
contain
peroxisomal
remnants
lacking
apparent
matrix
protein
content
and
PEX
14
,
a
central
membrane
component
of
the
peroxisomal
matrix
protein
import
machinery
.
Transfection
of
fibroblasts
with
a
plasmid
coding
for
wild-
type
PEX
14
restored
peroxisomal
matrix
protein
import
,
indicating
that
the
primary
genetic
defect
affecting
the
patient
is
indeed
linked
to
PEX
14
.
Mutational
analysis
of
this
gene
revealed
a
genomic
deletion
leading
to
the
deletion
of
exon
3
from
the
coding
DNA
(
c
.
85
-
?
_
170
+
?
del
)
and
a
concomitant
change
of
the
reading
frame
(
p
.
[
Ile
29
_
Lys
56
del
;
Gly
57
GlyfsX
2
]
)
.
This
report
represents
the
second
PEX
14
-
deficiency
associated
with
Zellweger
syndrome
and
the
first
documentation
of
a
PEX
14
-
deficient
patient
with
detailed
clinical
follow-up
and
biochemical
,
morphological
,
and
radiological
data
.
Diseases
Validation
Diseases presenting
"abnormal findings"
symptom
cadasil
familial mediterranean fever
focal myositis
lymphangioleiomyomatosis
malignant atrophic papulosis
phenylketonuria
sneddon syndrome
zellweger syndrome
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