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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
[neuralgic amyotrophy]
Hereditary
neuralgic
amyotrophy
(
HNA
)
is
an
autosomal
dominant
disorder
that
manifests
as
recurrent
,
episodic
,
painful
brachial
neuropathies
.
A
gene
for
HNA
maps
to
chromosome
17
q
25
.
3
where
mutations
in
SEPT
9
,
encoding
the
septin-
9
protein
,
have
been
identified
.
To
determine
the
frequency
and
type
of
mutations
in
the
SEPT
9
gene
in
a
new
cohort
of
42
unrelated
HNA
pedigrees
.
DNA
sequencing
of
all
exons
and
intron-exon
boundaries
for
SEPT
9
was
carried
out
in
an
affected
individual
in
each
pedigree
from
our
HNA
cohort
.
Genotyping
using
microsatellite
markers
spanning
the
SEPT
9
gene
was
also
used
to
identify
pedigrees
with
a
previously
reported
founder
haplotype
.
Two
missense
mutations
were
found
:
c
.
262
C
>
T
(
p
.
Arg
88
T
rp
)
in
seven
HNA
pedigrees
and
c
.
278
C
>
T
(
p
.
Ser
93
P
he
)
in
one
HNA
pedigree
.
Sequencing
of
other
known
exons
in
SEPT
9
detected
no
additional
disease-associated
mutations
.
A
founder
haplotype
,
without
defined
mutations
in
SEPT
9
,
was
present
in
seven
pedigrees
.
We
provide
further
evidence
that
mutation
of
the
SEPT
9
gene
is
the
molecular
basis
of
some
cases
of
hereditary
neuralgic
amyotrophy
(
HNA
)
.
DNA
sequencing
of
SEPT
9
demonstrates
a
restricted
set
of
mutations
in
this
cohort
of
HNA
pedigrees
.
Nonetheless
,
sequence
analysis
will
have
an
important
role
in
mutation
detection
in
HNA
.
Additional
techniques
will
be
required
to
find
SEPT
9
mutations
in
an
HNA
founder
haplotype
and
other
pedigrees
.
Diseases
Validation
Diseases presenting
"mutations in the sept9 gene in a new cohort"
symptom
neuralgic amyotrophy
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