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Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
[zellweger syndrome]
Peroxisomal
biogenesis
disorders
represent
a
group
of
genetically
heterogeneous
conditions
that
have
in
common
failure
of
proper
peroxisomal
assembly
.
Clinically
,
they
are
characterized
by
a
spectrum
of
dysmorphia
,
neurological
,
liver
,
and
other
organ
involvement
.
To
date
,
mutations
in
13
PEX
genes
encoding
peroxins
have
been
identified
in
patients
with
peroxisomal
biogenesis
disorders
.
Mutations
in
PEX
13
,
which
encodes
peroxisomal
membrane
protein
PEX
13
,
are
among
the
least
common
causes
of
peroxisomal
biogenesis
disorders
with
only
three
mutations
reported
so
far
.
Here
,
we
report
on
two
infants
whose
clinical
and
biochemical
profile
was
consistent
with
classical
Zellweger
syndrome
and
whose
complementation
analysis
assigned
them
both
to
group
H
of
peroxisomal
biogenesis
disorders
.
We
show
that
they
harbor
two
novel
mutations
in
PEX
13
.
One
patient
had
a
genomic
rearrangement
resulting
in
a
147
kb
deletion
that
spans
the
whole
of
PEX
13
,
while
the
other
had
an
out-of-frame
deletion
of
14
bp
.
This
represents
the
first
report
of
a
PEX
13
deletion
and
suggests
that
further
work
is
needed
to
examine
the
frequency
of
PEX
13
mutations
among
Arab
patients
with
peroxisomal
biogenesis
disorders
.
Diseases
Validation
Diseases presenting
"common causes"
symptom
allergic bronchopulmonary aspergillosis
congenital diaphragmatic hernia
cushing syndrome
erdheim-chester disease
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
pendred syndrome
primary effusion lymphoma
pyruvate dehydrogenase deficiency
sneddon syndrome
thoracic outlet syndrome
typhoid
zellweger syndrome
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