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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
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated