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A random Abstract
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Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
[pendred syndrome]
Pendred
syndrome
is
an
autosomal
recessive
disorder
characterized
by
congenital
sensorineural
deafness
,
goitre
and
defective
iodide
organification
.
Congenital
and
profound
hearing
loss
is
the
hallmark
of
the
syndrome
,
while
goitre
and
thyroid
dysfunction
are
highly
variable
even
within
the
same
family
.
Clinical
features
are
due
to
altered
formation
of
pendrin
,
a
chloride
/
iodide
transporter
protein
expressed
in
the
inner
ear
,
thyroid
gland
and
kidney
.
A
novel
substitution
was
found
in
exon
7
of
the
pendrin
encoding
gene
(
SLC
26
A
4
)
that
leads
to
a
stop
codon
,
S
314
X
.
The
new
variation
was
found
in
compound
heterozygosity
with
L
445
W
mutation
in
a
hearing
impaired
patient
with
bilateral
Mondini
's
dysplasia
and
goitre
.
Diseases
Validation
Diseases presenting
"thyroid gland"
symptom
familial hypocalciuric hypercalcemia
pendred syndrome
pleomorphic liposarcoma
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