Rare Diseases Symptoms Automatic Extraction
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Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.
[pendred syndrome]
Mutations
in
the
SLC
26
A
4
gene
can
cause
both
Pendred
syndrome
and
nonsyndromic
enlargement
of
the
vestibular
aqueduct
,
two
conditions
associated
with
sensorineural
hearing
loss
.
We
analyzed
the
SLC
26
A
4
gene
in
44
hearing
-
impaired
patients
by
nested
polymerase
chain
reaction
followed
by
high
-resolution
melt
analysis
.
We
also
used
this
approach
to
scan
for
mutations
in
KCNJ
10
and
FOXI
1
,
two
genes
reported
to
play
a
role
in
the
pathogenesis
of
Pendred
syndrome
and
enlarged
vestibular
aqueduct
.
Seven
patients
with
known
SLC
26
A
4
mutations
were
included
as
controls
.
All
previously
identified
mutations
were
detected
by
high
-resolution
melt
analysis
.
Of
the
patients
with
no
known
mutations
,
we
detected
two
SLC
26
A
4
mutations
in
5
probands
(
12
%
)
,
one
mutation
in
9
probands
(
21
%
)
,
and
no
mutations
in
29
probands
(
67
%
)
.
We
identified
two
novel
SLC
26
A
4
mutations
,
p
.
T
485
M
and
p
.
F
7
18
S
,
and
found
no
evidence
of
a
digenic
contribution
of
KCNJ
10
and
FOXI
1
mutations
.
Diseases
Validation
Diseases presenting
"enlarged vestibular aqueduct"
symptom
pendred syndrome
This symptom has already been validated