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Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.
[pendred syndrome]
Pendred
syndrome
(
PDS
)
and
DFNB
4
comprise
a
phenotypic
spectrum
of
sensorineural
hearing
loss
disorders
that
typically
result
from
biallelic
mutations
of
the
SLC
26
A
4
gene
.
Although
PDS
and
DFNB
4
are
recessively
inherited
,
sequencing
of
the
coding
regions
and
splice
sites
of
SLC
26
A
4
in
individuals
suspected
to
be
affected
with
these
conditions
often
fails
to
identify
two
mutations
.
We
investigated
the
potential
contribution
of
large
SLC
26
A
4
deletions
and
duplications
to
sensorineural
hearing
loss
(
SNHL
)
by
screening
107
probands
with
one
known
SLC
26
A
4
mutation
by
Multiplex
Ligation-dependent
Probe
Amplification
(
MLPA
)
.
A
heterozygous
deletion
,
spanning
exons
4
-
6
,
was
detected
in
only
one
individual
,
accounting
for
approximately
1
%
of
the
missing
mutations
in
our
cohort
.
This
low
frequency
is
consistent
with
previously
published
MLPA
results
.
We
also
examined
the
potential
involvement
of
digenic
inheritance
in
PDS
/
DFNB
4
by
sequencing
the
coding
regions
of
FOXI
1
and
KCNJ
10
.
Of
the
29
probands
who
were
sequenced
,
three
carried
nonsynonymous
variants
including
one
novel
sequence
change
in
FOXI
1
and
two
polymorphisms
in
KCNJ
10
.
We
performed
a
review
of
prior
studies
and
,
in
conjunction
with
our
current
data
,
conclude
that
the
frequency
of
FOXI
1
(
1
.
4
%
)
and
KCNJ
10
(
3
.
6
%
)
variants
in
PDS
/
DFNB
4
individuals
is
low
.
Our
results
,
in
combination
with
previously
published
reports
,
indicate
that
large
SLC
26
A
4
deletions
and
duplications
as
well
as
mutations
of
FOXI
1
and
KCNJ
10
play
limited
roles
in
the
pathogenesis
of
SNHL
and
suggest
that
other
genetic
factors
likely
contribute
to
the
phenotype
.