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
.
Diseases
Validation
Diseases presenting
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated