Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
[pendred syndrome]
Enlargement
of
the
vestibular
aqueduct
(
EVA
)
is
the
most
common
inner
ear
anomaly
detected
in
ears
of
children
with
sensorineural
hearing
loss
.
Pendred
syndrome
(
PS
)
is
an
autosomal
recessive
disorder
characterized
by
bilateral
sensorineural
hearing
loss
with
EVA
and
an
iodine
organification
defect
that
can
lead
to
thyroid
goiter
.
Pendred
syndrome
is
caused
by
mutations
of
the
SLC
26
A
4
gene
.
SLC
26
A
4
mutations
may
also
be
identified
in
some
patients
with
nonsyndromic
EVA
(
NSEVA
)
.
The
presence
of
two
mutant
alleles
of
SLC
26
A
4
is
correlated
with
bilateral
EVA
and
Pendred
syndrome
,
whereas
unilateral
EVA
and
NSEVA
are
correlated
with
one
(
M
1
)
or
zero
(
M
0
)
mutant
alleles
of
SLC
26
A
4
.
Thyroid
gland
enlargement
(
goiter
)
appears
to
be
primarily
dependent
on
the
presence
of
two
mutant
alleles
of
SLC
26
A
4
in
pediatric
patients
,
but
not
in
older
patients
.
In
M
1
families
,
EVA
may
be
associated
with
a
second
,
undetected
SLC
26
A
4
mutation
or
epigenetic
modifications
.
In
M
0
families
,
there
is
probably
etiologic
heterogeneity
that
includes
causes
other
than
,
or
in
addition
to
,
monogenic
inheritance
.
