Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated