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Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
[neonatal adrenoleukodystrophy]
The
peroxisome
biogenesis
disorders
(
PBDs
)
are
a
group
of
neuronal
migration
/
neurodegenerative
disorders
that
arise
from
defects
in
PEX
genes
.
A
major
subgroup
of
the
PBDs
includes
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
and
infantile
Refsum
disease
(
IRD
)
.
These
three
disorders
represent
a
clinical
continuum
with
Zellweger
syndrome
the
most
severe
.
Mutations
in
the
PEX
1
gene
,
which
encodes
a
protein
of
the
AAA
ATPase
family
involved
in
peroxisome
matrix
protein
import
,
account
for
the
genetic
defect
in
more
than
half
of
the
patients
in
this
PBD
subgroup
.
We
report
here
on
the
results
of
PEX
1
mutation
detection
in
an
Australasian
cohort
of
PEX
1
-
deficient
PBD
patients
.
This
screen
has
identified
five
novel
mutations
,
including
nonsense
mutations
in
exons
14
and
19
and
single
nucleotide
deletions
in
exons
5
and
18
.
Significantly
,
the
allele
carrying
the
exon
18
frameshift
mutation
is
present
at
moderately
high
frequency
(
approx
.
10
%
)
in
this
patient
cohort
.
The
fifth
mutation
is
a
missense
mutation
(
R
798
G
)
that
attenuates
,
but
does
not
abolish
PEX
1
function
.
We
have
evaluated
the
cellular
impact
of
these
novel
mutations
,
along
with
that
of
the
two
most
common
PEX
1
mutations
(
c
.
2097
-
2098
insT
and
G
8
43
D
)
,
in
PBD
patients
by
determining
the
levels
of
PEX
1
mRNA
,
PEX
1
protein
,
and
peroxisome
protein
import
.
The
findings
are
consistent
with
a
close
correlation
between
cellular
phenotype
,
disease
severity
,
and
PEX
1
genotype
.
Diseases
Validation
Diseases presenting
"moderately high frequency"
symptom
neonatal adrenoleukodystrophy
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