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Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
[pendred syndrome]
Pendred
syndrome
and
DFNB
4
(
autosomal
recessive
nonsyndromic
congenital
deafness
,
locus
4
)
are
associated
with
autosomal
recessive
congenital
sensorineural
hearing
loss
and
mutations
in
the
SLC
26
A
4
gene
.
Extensive
allelic
heterogeneity
,
however
,
necessitates
analysis
of
all
exons
and
splice
sites
to
identify
mutations
for
individual
patients
.
Although
Sanger
sequencing
is
the
gold
standard
for
mutation
detection
,
screening
methods
supplemented
with
targeted
sequencing
can
provide
a
cost-effective
alternative
.
One
such
method
,
denaturing
high
-performance
liquid
chromatography
,
was
developed
for
clinical
mutation
detection
in
SLC
26
A
4
.
However
,
this
method
inherently
can
not
distinguish
homozygous
changes
from
wild-
type
sequences
.
High
-resolution
melting
(
HRM
)
,
on
the
other
hand
,
can
detect
heterozygous
and
homozygous
changes
cost-effectively
,
without
any
post-
PCR
modifications
.
We
developed
a
closed-tube
HRM
mutation
detection
method
specific
for
SLC
26
A
4
that
can
be
used
in
the
clinical
diagnostic
setting
.
Twenty
-
eight
primer
pairs
were
designed
to
cover
all
21
SLC
26
A
4
exons
and
splice
junction
sequences
.
Using
the
resulting
amplicons
,
initial
HRM
analysis
detected
all
45
variants
previously
identified
by
sequencing
.
Subsequently
,
a
384
-
well
plate
format
was
designed
for
up
to
three
patient
samples
per
run
.
Blinded
HRM
testing
on
these
plates
of
patient
samples
collected
over
1
year
in
a
clinical
diagnostic
laboratory
accurately
detected
all
variants
identified
by
sequencing
.
In
conclusion
,
HRM
with
targeted
sequencing
is
a
reliable
,
simple
,
and
cost-effective
method
for
SLC
26
A
4
mutation
screening
and
detection
.
Diseases
Validation
Diseases presenting
"high-performance liquid chromatography"
symptom
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
dentinogenesis imperfecta
krabbe disease
neonatal adrenoleukodystrophy
pendred syndrome
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