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Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
[pendred syndrome]
The
SLC
26
A
4
gene
has
been
described
as
the
second
gene
involved
in
most
cases
of
sensorineural
non-syndromic
hearing
loss
,
since
the
first
is
the
GJB
2
gene
.
Recessive
mutations
in
the
SLC
26
A
4
gene
encoding
pendrin
,
an
anion
transporter
,
are
responsible
for
non-syndromic
hearing
loss
associated
with
an
enlarged
vestibular
aqueduct
(
EVA
)
and
Pendred
syndrome
,
which
causes
early
hearing
loss
and
affects
the
thyroid
gland
.
Typically
,
the
hearing
loss
is
profound
and
prelingual
.
However
,
in
some
individuals
,
hearing
impairment
may
develop
later
in
childhood
and
then
progress
.
Over
200
different
SLC
26
A
4
mutations
have
been
reported
,
with
each
ethnic
population
having
its
own
distinctive
mutant
allele
series
including
a
few
prevalent
founder
mutations
.
Perform
the
screening
of
the
20
coding
exons
of
SLC
26
A
4
gene
in
Brazilian
deaf
individuals
with
EVA
.
A
mong
the
23
unrelated
non-syndromic
hearing
loss
Brazilian
patients
with
EVA
,
in
whom
no
deafness
-causing
mutations
of
the
GJB
2
gene
,
the
direct
sequencing
was
performed
to
screen
the
20
exons
and
their
flanking
regions
of
the
SLC
26
A
4
gene
.
T
he
sequencing
results
revealed
9
cases
(
39
%
)
carrying
13
different
SLC
26
A
4
mutations
,
including
11
known
mutations
(
279
delT
,
V
138
F
,
T
19
3
I
,
IVS
8
+
1
G
>
A
,
T
410
M
,
Q
413
R
,
R
409
H
,
L
445
W
,
IVS
15
+
5
G
>
A
,
V
609
G
,
and
R
776
C
)
and
2
novel
mutation
(
G
149
R
and
P
142
L
)
.
The
SLC
26
A
4
mutations
have
a
high
carrying
rate
in
non-syndromic
hearing
loss
Brazilian
patients
.
The
identification
of
a
disease-causing
mutation
can
be
used
to
establish
a
genotypic
diagnosis
and
provide
important
information
to
the
patients
and
their
families
.
Diseases
Validation
Diseases presenting
"mutations of the gjb2 gene"
symptom
pendred syndrome
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