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Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
[pendred syndrome]
Pendred
syndrome
is
a
common
autosomal
recessive
disorder
causing
deafness
.
Features
include
sensorineural
hearing
impairment
,
goitre
,
enlarged
vestibular
aqueducts
(
EVA
)
and
occasionally
Mondini
dysplasia
.
Hearing
impairment
and
EVA
may
occur
in
the
absence
of
goitre
or
thyroid
dyshormonogensis
in
a
condition
known
as
non-syndromic
EVA
.
A
significant
number
of
patients
with
Pendred
syndrome
and
non-syndromic
EVA
show
only
one
mutation
in
SLC
26
A
4
.
Two
genes
,
KCNJ
10
,
encoding
an
inwardly
rectifying
potassium
channel
and
FOXI
1
,
a
transcriptional
factor
gene
,
are
thought
to
play
a
role
in
the
disease
phenotypes
.
Using
Polymerase
Chain
Reaction
and
Sanger
sequencing
,
sixty-
eight
patients
with
monoallelic
mutations
of
SLC
26
A
4
were
tested
for
mutations
in
KCNJ
10
and
FOXI
1
.
T
wo
variants
were
observed
in
the
KCNJ
10
gene
,
p
.
Arg
271
Cys
in
three
patients
and
p
.
Arg
18
Gln
in
one
patient
;
only
one
variant
,
p
.
Arg
123
Trp
was
observed
in
the
FOXI
1
gene
in
a
single
patient
.
Both
p
.
Arg
271
C
ys
and
p
.
Arg
18
Gln
are
likely
to
be
polymorphisms
as
judged
by
their
frequency
in
the
general
population
.
Therefore
we
found
no
evidence
for
a
significant
association
between
mutations
of
KCNJ
10
and
FOXI
1
with
SLC
26
A
4
.
It
was
also
observed
that
the
variant
,
p
.
Arg
271
Cys
in
KCNJ
10
,
previously
thought
to
have
a
protective
effect
against
seizure
susceptibility
,
was
found
in
a
patient
with
Pendred
syndrome
with
co
-existing
epilepsy
.
Diseases
Validation
Diseases presenting
"it"
symptom
carcinoma of the gallbladder
dedifferentiated liposarcoma
dentinogenesis imperfecta
esophageal carcinoma
heparin-induced thrombocytopenia
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
legionellosis
lymphangioleiomyomatosis
oligodontia
pendred syndrome
pyomyositis
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