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Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
[pendred syndrome]
Mutations
in
SLC
26
A
4
,
which
encodes
pendrin
,
are
a
common
cause
of
deafness
.
SLC
26
A
4
mutations
are
responsible
for
Pendred
syndrome
and
non-syndromic
enlarged
vestibular
aqueduct
(
EVA
)
.
The
mutation
spectrum
of
SLC
26
A
4
varies
widely
among
ethnic
groups
.
To
investigate
the
incidence
of
EVA
in
Chinese
population
and
to
provide
appropriate
genetic
testing
and
counseling
to
patients
with
SLC
26
A
4
variants
,
we
conducted
a
large
-scale
molecular
epidemiological
survey
of
SLC
26
A
4
.
A
total
of
2352
unrelated
non-syndromic
hearing
loss
patients
from
27
different
regions
of
China
were
included
.
Hot
spot
regions
of
SLC
26
A
4
,
exons
8
,
10
and
19
were
sequenced
.
For
patients
with
one
allelic
variant
in
the
hot
spot
regions
,
the
other
exons
were
sequenced
one
by
one
until
two
mutant
alleles
had
been
identified
.
Patients
with
SLC
26
A
4
variants
were
then
examined
by
temporal
bone
computed
tomography
scan
for
radiological
diagnosis
of
EVA
.
Ten
SLC
26
A
4
variants
were
cloned
for
functional
study
.
Confocal
microscopy
and
radioisotope
techniques
were
used
to
examine
the
membrane
expression
of
pendrin
and
transporter
function
.
Of
the
86
types
of
variants
found
,
47
have
never
been
reported
.
The
ratio
of
EVA
in
the
Chinese
deaf
population
was
at
least
11
%
,
and
that
in
patients
of
Han
ethnicity
reached
at
least
13
%
.
The
mutational
spectrum
and
mutation
detection
rate
of
SLC
26
A
4
are
distinct
among
both
ethnicities
and
regions
of
Mainland
China
.
Most
of
the
variants
caused
retention
of
pendrin
in
the
intracellular
region
.
All
the
mutant
pendrins
showed
significantly
reduced
transport
capability
.
An
overall
description
of
the
molecular
epidemiological
findings
of
SLC
26
A
4
in
China
is
provided
.
The
functional
assessment
procedure
can
be
applied
to
identification
of
pathogenicity
of
variants
.
These
findings
are
valuable
for
genetic
diagnosis
,
genetic
counseling
,
prenatal
testing
and
pre-implantation
diagnosis
in
EVA
families
.
Diseases
Validation
Diseases presenting
"reduced transport capability.an overall description of the molecular epidemiological findings"
symptom
pendred syndrome
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