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Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
[zellweger syndrome]
Inherited
peripheral
neuropathies
(
IPN
)
are
one
of
the
most
frequent
inherited
causes
of
neurological
disability
characterized
by
considerable
phenotypic
and
genetic
heterogeneity
.
Based
on
clinical
and
electrophysiological
properties
,
they
can
be
subdivided
into
three
main
groups
:
HMSN
,
dHMN
,
and
HSN
.
At
present
,
more
than
50
IPN
genes
have
been
identified
.
Still
,
many
patients
and
families
with
IPN
have
not
yet
received
a
molecular
genetic
diagnosis
because
clinical
genetic
testing
usually
only
covers
a
subset
of
IPN
genes
.
Moreover
,
a
considerable
proportion
of
IPN
genes
has
to
be
identified
.
Here
we
present
results
of
WES
in
27
IPN
patients
excluded
for
mutations
in
many
known
IPN
genes
.
Eight
of
the
patients
received
a
definite
diagnosis
.
While
six
of
these
patients
carried
bona
fide
pathogenic
mutations
in
known
IPN
genes
,
two
patients
had
mutations
in
genes
known
to
be
involved
in
other
types
of
neuromuscular
disorders
.
A
further
group
of
eight
patients
carried
sequence
variations
in
IPN
genes
that
could
not
unequivocally
be
classified
as
pathogenic
.
In
addition
,
combining
data
of
WES
and
linkage
analysis
identified
SH
3
BP
4
,
ITPR
3
,
and
KLHL
13
as
novel
IPN
candidate
genes
.
Moreover
,
there
was
evidence
that
particular
mutations
in
PEX
12
,
a
gene
known
to
cause
Zellweger
syndrome
,
could
also
lead
to
an
IPN
phenotype
.
We
show
that
WES
is
a
useful
tool
for
diagnosing
IPN
and
we
suggest
an
expanded
phenotypic
spectrum
of
some
genes
involved
in
other
neuromuscular
and
neurodegenerative
disorders
.
Nevertheless
,
interpretation
of
variants
in
known
and
potential
novel
disease
genes
has
remained
challenging
.
Diseases
Validation
Diseases presenting
"bona fide pathogenic mutations"
symptom
zellweger syndrome
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