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Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.
[pendred syndrome]
The
aim
of
this
study
was
to
detect
the
genetic
cause
of
deafness
in
a
large
Iranian
family
.
Due
to
the
importance
of
SLC
26
A
4
in
causing
hearing
loss
,
information
about
the
gene
mutations
can
be
beneficial
in
molecular
detection
and
management
of
deaf
patients
.
We
investigated
the
genetic
etiology
in
a
large
consanguineous
family
with
9
deaf
patients
from
Fars
province
of
Iran
with
no
GJB
2
mutations
.
Initially
,
linkage
analysis
was
performed
by
four
DFNB
4
short
tandem
repeat
markers
.
The
result
showed
linkage
to
DFNB
4
locus
.
Following
that
,
DNA
sequencing
of
all
21
exons
,
their
adjacent
intronic
sequences
and
the
promoter
of
SLC
26
A
4
was
carried
out
for
mutation
detection
.
Two
novel
mutations
(
c
.
863
-
864
insT
and
c
.
881
-
882
delAC
)
were
identified
in
exon
7
of
the
gene
,
in
both
homozygous
and
compound
heterozygous
state
in
patients
.
Our
results
supported
the
importance
of
the
SLC
26
A
4
mutations
in
the
etiology
of
hearing
loss
among
the
Iranian
patients
and
therefore
its
mutation
screening
should
be
considered
after
GJB
2
in
the
molecular
diagnostics
of
hearing
loss
,
especially
when
enlarged
vestibular
aqueduct
or
goiter
is
detected
.
