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Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
[pendred syndrome]
Patients
with
PS
or
non-syndromic
deafness
were
submitted
to
genetic
/
functional
analyzes
of
SLC
26
A
4
,
of
its
binding
domain
for
FOXI
1
(
FOXI
1
-
DBD
)
,
of
the
transcription
activator
FOXI
1
,
and
of
the
potassium
channel
KCNJ
10
.
SLC
26
A
4
was
the
most
frequently
mutated
gene
.
An
altered
intracellular
localization
with
immunocytochemistry
,
and
a
hampered
maturation
process
were
demonstrated
for
two
novel
SLC
26
A
4
variants
.
Biochemical
and
immunocytochemical
analyzes
led
to
the
development
of
a
more
sensitive
fluorometric
functional
assay
able
to
reveal
the
partial
loss
-of-function
of
SLC
26
A
4
mutations
.
A
novel
missense
variant
was
found
in
FOXI
1
gene
,
though
functional
analysis
showed
no
significant
impairment
in
the
transcriptional
activation
of
SLC
26
A
4
.
Finally
,
3
patients
were
found
to
harbor
a
variant
in
KCNJ
10
,
which
was
classified
as
polymorphism
.
The
novelty
of
the
study
resides
in
the
analysis
of
all
the
4
candidate
genetic
loci
linked
to
PS
/
non-syndromic
deafness
,
and
in
the
precise
definition
of
the
thyroid
phenotype
.
PS
was
invariably
associated
with
biallelic
mutations
of
SLC
26
A
4
,
whereas
the
genetic
origin
of
non-syndromic
deafness
remained
largely
undetermined
,
since
monoallelic
SLC
26
A
4
variants
accounted
for
one
fourth
of
the
cases
and
FOXI
1
and
KCNJ
10
were
not
involved
in
this
series
.
Diseases
Validation
Diseases presenting
"mutations of slc26a4"
symptom
pendred syndrome
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