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Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
[neonatal adrenoleukodystrophy]
The
peroxisome-biogenesis
disorders
(
PBDs
)
are
a
group
of
genetically
heterogeneous
,
lethal
diseases
that
are
characterized
by
neuronal
,
hepatic
,
and
renal
abnormalities
;
severe
mental
retardation
;
and
,
in
their
most
severe
form
,
death
within
the
1
st
year
of
life
.
Cells
from
all
PBD
patients
exhibit
decreased
import
of
one
or
more
classes
of
peroxisome
matrix
proteins
,
a
phenotype
shared
by
yeast
pex
mutants
.
We
identified
the
human
orthologue
of
yeast
PEX
10
and
observed
that
its
expression
rescues
peroxisomal
matrix-protein
import
in
PBD
patients
'
fibroblasts
from
complementation
group
7
(
CG
7
)
.
In
addition
,
we
detected
mutations
on
both
copies
of
PEX
10
in
two
unrelated
CG
7
patients
.
A
Zellweger
syndrome
patient
,
PBD
100
,
was
homozygous
for
a
splice
donor-site
mutation
that
results
in
exon
skipping
and
loss
of
407
bp
from
the
PEX
10
open
reading
frame
.
A
more
mildly
affected
neonatal
adrenoleukodystrophy
patient
was
a
compound
heterozygote
for
a
missense
mutation
in
the
PEX
10
zinc-binding
domain
,
H
290
Q
,
and
for
a
nonsense
mutation
,
R
125
ter
.
Although
all
three
mutations
attenuate
PEX
10
activity
,
the
two
alleles
detected
in
the
mildly
affected
patient
,
PBD
052
,
encode
partially
functional
PEX
10
proteins
.
PEX
10
-
deficient
PBD
100
cells
contain
many
peroxisomes
and
import
peroxisomal
membrane
proteins
but
do
not
import
peroxisomal
matrix
proteins
,
indicating
that
loss
of
PEX
10
has
its
most
pronounced
effect
on
peroxisomal
matrix-protein
import
.
Diseases
Validation
Diseases presenting
"mildly affected neonatal adrenoleukodystrophy patient"
symptom
neonatal adrenoleukodystrophy
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