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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
"common cause"
symptom
achondroplasia
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
coats disease
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
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primary hyperoxaluria type 1
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scrub typhus
systemic capillary leak syndrome
thoracic outlet syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
zellweger syndrome
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