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Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
[zellweger syndrome]
Peroxisome
biogenesis
disorders
(
PBD
)
are
a
heterogeneous
group
of
autosomal
recessive
neurodegenerative
disorders
that
affect
multiple
organ
systems
.
Approximately
80
%
of
PBD
patients
are
classified
in
the
Zellweger
syndrome
spectrum
(
PBD-ZSS
)
.
Mutations
in
the
PEX
1
,
PEX
6
,
PEX
10
,
PEX
12
,
or
PEX
26
genes
are
found
in
approximately
90
%
of
PBD-ZSS
patients
.
Here
,
we
sequenced
the
coding
regions
and
splice
junctions
of
these
five
genes
in
58
PBD-ZSS
cases
previously
subjected
to
targeted
sequencing
of
a
limited
number
of
PEX
gene
exons
.
In
our
cohort
,
71
unique
sequence
variants
were
identified
,
including
18
novel
mutations
predicted
to
disrupt
protein
function
and
2
novel
silent
variants
.
We
identified
4
patients
who
had
two
deleterious
mutations
in
one
PEX
gene
and
a
third
deleterious
mutation
in
a
second
PEX
gene
.
For
two
such
patients
,
we
conducted
cell
fusion
complementation
analyses
to
identify
the
defective
gene
responsible
for
aberrant
peroxisome
assembly
.
Overall
,
we
provide
empirical
data
to
estimate
the
relative
fraction
of
disease-causing
alleles
that
occur
in
the
coding
and
splice
junction
sequences
of
these
five
PEX
genes
and
the
frequency
of
cases
where
mutations
occur
in
multiple
PEX
genes
.
This
information
is
beneficial
for
efforts
aimed
at
establishing
rapid
and
sensitive
clinical
diagnostics
for
PBD-ZSS
patients
and
interpreting
the
results
from
these
genetic
tests
.
Diseases
Validation
Diseases presenting
"limited number"
symptom
22q11.2 deletion syndrome
achondroplasia
cholangiocarcinoma
congenital diaphragmatic hernia
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
erythropoietic protoporphyria
liposarcoma
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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