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Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
[pendred syndrome]
Mutations
in
SLC
26
A
4
cause
Pendred
syndrome
(
hearing
loss
with
goiter
)
or
DFNB
4
(
non-syndromic
hearing
loss
with
inner
ear
malformation
,
such
as
enlarged
vestibular
aqueduct
or
Mondini
deformity
)
.
The
relationship
between
mutations
in
SLC
26
A
4
and
Mondini
deformity
without
enlarged
vestibular
aqueduct
has
not
been
studied
in
any
Chinese
deaf
population
.
The
purpose
of
this
study
was
to
assess
whether
mutations
in
the
SLC
26
A
4
gene
cause
Mondini
deformity
without
an
enlarged
vestibular
aqueduct
(
isolated
Mondini
deformity
)
in
a
Chinese
population
.
I
n
total
,
144
patients
with
sensorineural
hearing
loss
were
included
and
subjected
to
high
-resolution
temporal
bone
CT
.
Among
them
,
28
patients
with
isolated
Mondini
dysplasia
(
MD
group
)
,
50
patients
with
enlarged
vestibular
aqueduct
with
Mondini
dysplasia
(
EVA
with
MD
group
)
,
50
patients
with
enlarged
vestibular
aqueduct
without
Mondini
dysplasia
(
EVA
group
)
,
and
16
patients
with
other
types
of
inner
ear
malformations
(
IEM
group
)
were
identified
.
The
coding
exons
of
SLC
26
A
4
were
analyzed
in
all
subjects
.
DNA
sequence
analysis
of
SLC
26
A
4
was
performed
in
all
144
patients
.
In
the
different
groups
,
the
detection
rate
of
the
SLC
26
A
4
mutation
differed
.
In
the
isolated
MD
group
,
only
one
single
allelic
mutation
in
SLC
26
A
4
was
found
in
one
patient
(
1
/
28
,
3
.
6
%
)
.
In
the
EVA
with
MD
group
,
biallelic
and
monoallelic
SLC
26
A
4
mutations
were
identified
in
46
patients
(
46
/
50
,
92
.
0
%
)
and
three
patients
(
3
/
50
,
6
.
0
%
)
,
respectively
.
Also
,
in
the
EVA
group
,
biallelic
and
monoallelic
SLC
26
A
4
mutations
were
identified
in
46
patients
(
46
/
50
,
92
.
0
%
)
and
three
patients
(
3
/
50
,
6
.
0
%
)
,
respectively
.
These
percentages
were
identical
to
those
in
the
EVA
plus
MD
group
.
Only
two
patients
carried
monoallelic
mutations
of
the
SLC
26
A
4
gene
in
the
IEM
group
(
2
/
16
,
12
.
5
%
)
.
There
were
significant
differences
in
the
frequency
of
SLC
26
A
4
mutation
among
the
groups
(
P
<
0
.
001
)
.
The
detection
rate
of
SLC
26
A
4
mutation
in
the
isolated
MD
group
was
significantly
lower
than
in
the
EVA
group
(
with
or
without
MD
;
P
<
0
.
001
)
,
and
there
was
no
significant
difference
in
the
detection
rate
of
SLC
26
A
4
between
the
MD
group
and
IEM
group
(
P
>
0
.
5
)
.
Although
mutations
in
the
SLC
26
A
4
gene
were
frequently
found
in
Chinese
EVA
patients
with
and
without
MD
,
there
was
no
evidence
to
show
a
relationship
between
isolated
MD
and
the
SLC
26
A
4
gene
in
the
Chinese
population
examined
.
Hearing
impairment
in
patients
with
isolated
MD
may
be
caused
by
factors
other
than
mutations
in
the
SLC
26
A
4
gene
.
Diseases
Validation
Diseases presenting
"mutations of the slc26a4 gene"
symptom
pendred syndrome
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