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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
[neuralgic amyotrophy]
Genomic
copy
number
variants
have
been
shown
to
be
responsible
for
multiple
genetic
diseases
.
Recently
,
a
duplication
in
septin
9
(
SEPT
9
)
was
shown
to
be
causal
for
hereditary
neuralgic
amyotrophy
(
HNA
)
,
an
episodic
peripheral
neuropathy
with
autosomal
dominant
inheritance
.
This
duplication
was
identified
in
12
pedigrees
that
all
shared
a
common
founder
haplotype
.
Based
on
array
comparative
genomic
hybridisation
,
we
identified
six
additional
heterogeneous
tandem
SEPT
9
duplications
in
patients
with
HNA
that
did
not
possess
the
founder
haplotype
.
Five
of
these
novel
duplications
are
intragenic
and
result
in
larger
transcript
and
protein
products
,
as
demonstrated
through
reverse
transcription-
PCR
and
western
blotting
.
One
duplication
spans
the
entire
SEPT
9
gene
and
does
not
generate
aberrant
transcripts
and
proteins
.
The
breakpoints
of
all
the
duplications
are
unique
and
contain
regions
of
microhomology
ranging
from
2
to
9
bp
in
size
.
The
duplicated
regions
contain
a
conserved
645
bp
exon
within
SEPT
9
in
which
HNA-linked
missense
mutations
have
been
previously
identified
,
suggesting
that
the
region
encoded
by
this
exon
is
important
to
the
pathogenesis
of
HNA
.
T
ogether
with
the
previously
identified
founder
duplication
,
a
total
of
seven
heterogeneous
SEPT
9
duplications
have
been
identified
in
this
study
as
a
causative
factor
of
HNA
.
These
duplications
account
for
one
third
of
the
patients
in
our
cohort
,
suggesting
that
duplications
of
various
sizes
within
the
SEPT
9
gene
are
a
common
cause
of
HNA
.
Diseases
Validation
Diseases presenting
"larger transcript"
symptom
neuralgic amyotrophy
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