Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
[pendred syndrome]
To
investigate
the
implication
of
SLC
26
A
4
,
FOXI
and
KCNJ
10
genes
in
unilateral
hearing
impairment
associated
with
ipsilateral
inner
ear
malformation
(
Enlargement
of
the
vestibular
aqueduct
and
/
or
Mondini
dysplasia
)
.
We
have
gathered
25
patients
presenting
unilateral
hearing
impairment
and
ipsilateral
enlarged
vestibular
aqueduct
.
For
each
of
the
patients
,
we
have
analyzed
SLC
26
A
4
,
FOXI
1
and
KCNJ
10
genes
sequences
.
The
analysis
of
SLC
26
A
4
revealed
only
eight
heterozygous
SLC
26
A
4
sequence
variants
,
three
of
them
being
novel
(
p
.
Met
147
Ile
,
p
.
Asn
538
Asn
and
p
.
Leu
627
Arg
)
.
None
of
the
patients
carried
a
second
mutation
on
the
other
allele
.
Moreover
,
the
SLC
26
A
4
locus
was
excluded
by
segregation
analysis
in
two
families
.
No
mutations
were
present
in
FOXI
1
and
KCNJ
10
genes
.
Together
,
these
data
suggest
that
SLC
26
A
4
,
FOXI
1
and
KCNJ
10
are
not
major
determinants
in
unilateral
deafness
and
enlarged
vestibular
aqueduct
compared
with
their
implication
in
Pendred
syndrome
and
non-syndromic
bilateral
enlarged
vestibular
aqueduct
.
Diseases
Validation
Diseases presenting
"unilateral deafness"
symptom
pendred syndrome
This symptom has already been validated
