Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.
[neuralgic amyotrophy]
Hereditary
recurrent
neuropathies
are
uncommon
.
Disorders
with
a
known
molecular
basis
falling
within
this
group
include
hereditary
neuropathy
with
liability
to
pressure
palsies
(
HNPP
)
due
to
the
deletion
of
the
PMP
22
gene
or
to
mutations
in
this
same
gene
,
and
hereditary
neuralgic
amyotrophy
(
HNA
)
caused
by
mutations
in
the
SEPT
9
gene
.
We
report
a
three
-generation
family
presenting
a
hereditary
recurrent
neuropathy
without
pathological
changes
in
either
PMP
22
or
SEPT
9
genes
.
We
performed
a
genome-
wide
mapping
,
which
yielded
a
locus
of
12
.
4
Mb
on
chromosome
21
q
21
.
The
constructed
haplotype
fully
segregated
with
the
disease
and
we
found
significant
evidence
of
linkage
.
After
mutational
screening
of
genes
located
within
this
locus
,
encoding
for
proteins
and
microRNAs
,
as
well
as
analysis
of
large
deletions
/
insertions
,
we
identified
71
benign
polymorphisms
.
Our
findings
suggest
a
novel
genetic
locus
for
a
recurrent
hereditary
neuropathy
of
which
the
molecular
defect
remains
elusive
.
Our
results
further
underscore
the
clinical
and
genetic
heterogeneity
of
this
group
of
neuropathies
.