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The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
[pendred syndrome]
Objective
:
To
determine
the
prevalence
and
types
of
SLC
26
A
4
mutations
and
the
relevant
phenotypes
in
a
series
of
Iranian
deaf
patients
.
Design
:
A
descriptive
laboratory
study
.
Study
sample
:
One
hundred
and
twenty-
one
families
including
60
unrelated
patients
and
61
unrelated
multiplex
families
with
autosomal
recessive
deafness
were
included
.
In
the
61
multiplex
families
,
linkage
was
conducted
for
short
tandem
repeats
(
STRs
)
of
the
DFNB
4
.
Selected
individuals
from
the
linked
families
and
all
of
the
60
deaf
individuals
were
subjected
to
sequencing
of
SLC
26
A
4
.
Results
:
Seven
out
of
the
61
(
11
.
5
%
)
families
were
linked
to
the
locus
which
upon
further
inquiry
led
to
identification
of
eight
different
mutations
.
Also
,
five
out
of
the
60
(
8
.
3
%
)
patients
were
positive
for
the
mutations
.
The
SLC
26
A
4
mutations
clarified
in
9
.
1
%
(
12
families
)
of
total
investigated
alleles
included
:
c
.
2106
delG
,
c
.
65
-
66
insT
,
c
.
881
-
882
delAC
,
c
.
863
-
864
insT
,
c
.
1226
G
>
A
,
c
.
1238
A
>
G
,
c
.
1334
T
>
G
,
c
.
1790
T
>
C
,
c
.
1489
G
>
A
,
c
.
919
-
2
A
>
G
(
IVS
7
-
2
A
>
G
)
,
c
.
1412
delT
,
and
c
.
1197
delT
.
Six
out
of
12
(
50
%
)
families
with
mutations
were
confirmed
to
be
Pendred
syndrome
(
PS
)
.
Conclusions
:
The
results
probably
suggest
a
high
prevalence
and
specificity
of
SLC
26
A
4
mutations
among
Iranian
deaf
patients
.
Molecular
study
of
SLC
26
A
4
may
lead
to
elucidation
of
the
population-
specific
mutation
profile
which
is
of
importance
in
diagnostics
of
deafness
.
Diseases
Validation
Diseases presenting
"specific mutation profile"
symptom
pendred syndrome
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