Rare Diseases Symptoms Automatic Extraction
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Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss.
[pendred syndrome]
Due
to
the
fact
that
SLC
26
A
4
has
been
suggested
as
the
second
cause
of
hearing
loss
(
HL
)
in
Iran
as
well
as
many
other
countries
,
obtaining
more
comprehensive
information
about
SLC
26
A
4
mutations
can
facilitate
more
efficient
genetic
services
to
the
patients
with
hereditary
hearing
loss
.
This
investigation
aims
to
detect
genetic
cause
of
two
Iranian
families
with
hearing
loss
.
In
the
present
study
,
genetic
linkage
analysis
via
4
short
tandem
repeat
markers
linked
to
SLC
26
A
4
was
performed
for
two
consanguineous
families
originating
from
Hormozgan
and
Chaharmahal
va
Bakhtiari
provinces
of
Iran
,
co
-segregating
autosomal
recessive
hearing
loss
and
showed
no
GJB
2
mutations
in
our
preliminary
investigation
.
For
identification
of
mutations
,
DNA
sequencing
of
SLC
26
A
4
including
all
the
21
exons
,
exon-intron
boundaries
and
the
promoter
was
carried
out
.
The
results
showed
linkage
to
this
gene
in
both
families
.
After
sequencing
,
two
novel
SLC
26
A
4
mutations
(
c
.
65
-
66
insT
in
exon
2
and
c
.
2106
delG
in
exon
19
)
were
revealed
in
the
two
studied
families
.
Results
of
this
study
stress
the
necessity
of
considering
the
analysis
of
SLC
26
A
4
in
molecular
diagnosis
of
deafness
especially
when
phenotypes
such
as
goiter
or
enlarged
vestibular
aqueduct
are
present
.