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Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.
[zellweger syndrome]
Peroxisome
biogenesis
disorders
(
PBD
)
represent
a
spectrum
of
genetic
disorders
characterized
by
impaired
peroxisome
assembly
.
Zellweger
syndrome
(
ZS
)
is
the
most
severe
form
of
PBD
and
is
characterized
by
craniofacial
abnormalities
,
severe
hypotonia
,
neonatal
seizures
,
ocular
abnormalities
,
psychomotor
retardation
,
hepatomegaly
and
increased
levels
of
very
long
chain
fatty
acids
(
VLCFA
)
.
The
most
common
mutation
associated
with
the
PBD
is
PEX
1
.
Here
,
the
first
Korean
patient
with
ZS
confirmed
by
clinical
,
biochemical
,
and
molecular
findings
is
reported
.
Two
novel
mutations
of
the
PEX
1
gene
were
identified
in
the
patient
with
ZS
.
The
patient
was
a
compound
heterozygote
for
c
.
2034
_
2035
delCA
and
c
.
2845
C
>
T
mutations
of
the
PEX
1
gene
.
Both
mutations
are
novel
findings
and
were
inherited
from
the
patient
's
parents
.
In
summary
,
here
the
first
Korean
case
of
ZS
is
reported
that
was
confirmed
by
two
novel
mutations
of
the
PEX
1
gene
.
Diseases
Validation
Diseases presenting
"ocular abnormalities"
symptom
aniridia
cohen syndrome
monosomy 21
neonatal adrenoleukodystrophy
wolf-hirschhorn syndrome
zellweger syndrome
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