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Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic.
[pendred syndrome]
Genetic
hearing
loss
is
highly
heterogeneous
and
more
than
100
genes
are
predicted
to
cause
this
disorder
in
humans
.
In
spite
of
this
large
genetic
heterogeneity
,
mutations
in
SLC
26
A
4
and
GJB
2
genes
are
primarily
responsible
for
the
major
etiologies
of
genetic
hearing
loss
among
Koreans
.
The
purpose
of
this
study
is
to
investigate
the
genetic
cause
of
deafness
in
Korean
cochlear
implantees
by
performing
a
genetic
screening
of
the
SLC
26
A
4
and
GJB
2
genes
.
T
he
study
cohort
included
421
unrelated
Korean
patients
with
sensorineural
hearing
loss
(
SNHL
)
and
who
had
received
cochlear
implants
(
CI
)
at
Soree
Ear
Clinic
from
July
2002
to
December
2010
.
Among
421
CI
patients
,
we
studied
230
cases
who
had
received
the
genetic
screening
for
SLC
26
A
4
or
GJB
2
genes
.
Written
informed
consent
was
obtained
from
all
participants
.
All
patients
had
severe
to
profound
,
bilateral
hearing
loss
.
For
56
patients
who
showed
enlarged
vestibular
aqueduct
on
their
computed
tomography
(
CT
)
scan
,
we
analyzed
SLC
26
A
4
.
For
174
CT
negative
patients
,
GJB
2
gene
was
sequenced
.
For
the
56
SLC
26
A
4
patients
,
32
(
57
.
1
%
)
had
two
pathogenic
recessive
mutations
in
SLC
26
A
4
.
A
single
recessive
SLC
26
A
4
mutation
was
identified
in
14
patients
(
25
%
)
.
H
723
R
and
IVS
7
-
2
A
>
G
were
the
most
commonly
found
mutations
,
accounting
for
60
.
3
%
(
47
/
78
)
and
30
.
8
%
(
24
/
78
)
of
the
mutated
alleles
,
respectively
.
For
the
174
GJB
2
patients
,
20
patients
(
11
.
5
%
)
had
two
pathogenic
recessive
mutations
in
GJB
2
.
235
delC
was
the
most
common
mutation
,
accounting
for
43
.
0
%
(
31
/
72
)
of
mutant
alleles
.
The
two
major
genes
,
SLC
26
A
4
and
GJB
2
,
contribute
major
causes
of
deafness
in
CI
patients
.
Continuous
studies
are
needed
to
identify
new
genes
that
can
cause
hearing
loss
to
Korean
CI
patients
.
Diseases
Validation
Diseases presenting
"mutations in slc26a4 and gjb2 genes are primarily responsible for the major etiologies of genetic hearing loss among koreans"
symptom
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