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Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
[pendred syndrome]
Mutations
in
SLC
26
A
4
cause
Pendred
syndrome
(
PS
)
-
hearing
loss
with
goitre
-
or
DFNB
4
-
non-syndromic
hearing
loss
(
NSHL
)
with
inner
ear
abnormalities
such
as
Enlarged
Vestibular
Aqueduct
(
EVA
)
or
Mondini
Dysplasia
(
MD
)
.
We
tested
303
unrelated
Czech
patients
with
early
hearing
loss
(
298
with
NSHL
and
5
with
PS
)
,
all
GJB
2
-
negative
,
for
SLC
26
A
4
mutations
and
evaluated
their
clinical
and
radiological
phenotype
.
Among
115
available
HRCT
/
MRI
scans
we
detected
three
MD
(
2
.
6
%
)
,
three
Mondini-like
affections
(
2
.
6
%
)
,
16
EVA
(
13
bilateral
-
19
.
2
%
and
15
.
6
%
respectively
)
and
61
EVA
/
MD
-negative
scans
(
73
.
4
%
)
.
We
found
mutation
(
s
)
in
26
patients
(
8
.
6
%
)
and
biallelic
mutations
in
eight
patients
(
2
.
7
%
)
out
of
303
tested
.
In
18
of
26
(
69
%
)
patients
,
no
second
mutation
could
be
detected
even
using
MLPA
.
The
spectrum
of
SLC
26
A
4
mutations
in
Czech
patients
is
broad
without
any
prevalent
mutation
.
We
detected
21
different
mutations
(
four
novel
)
.
The
most
frequent
mutations
were
p
.
Val
138
Phe
and
p
.
Leu
445
Trp
(
18
%
and
8
.
9
%
of
pathogenic
alleles
respectively
)
.
Among
13
patients
with
bilateral
EVA
,
six
patients
(
50
%
)
carry
biallelic
mutations
.
In
EVA
-
negative
patients
no
biallelic
mutations
were
found
but
4
.
9
%
had
monoallelic
mutations
.
SLC
26
A
4
mutations
are
present
mostly
in
patients
with
EVA
/
MD
and
/
or
progressive
HL
and
those
with
affected
siblings
.
Diseases
Validation
Diseases presenting
"slc26a4 mutations in czech patients"
symptom
pendred syndrome
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