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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
.