Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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 dysfunction are highly variable even within the same family"
symptom
pendred syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom