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
"hearing loss"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
benign recurrent intrahepatic cholestasis
canavan disease
cohen syndrome
congenital toxoplasmosis
dentinogenesis imperfecta
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
neonatal adrenoleukodystrophy
pendred syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
This symptom has already been validated