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Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
[pendred syndrome]
Mutations
in
SLC
26
A
4
cause
Pendred
syndrome
(
PS
)
-
hearing
loss
with
goitre
-
or
DFNB
4
-
non-syndromic
hearing
loss
(
NSHL
)
with
inner
ear
abnormalities
such
as
Enlarged
Vestibular
Aqueduct
(
EVA
)
or
Mondini
Dysplasia
(
MD
)
.
We
tested
303
unrelated
Czech
patients
with
early
hearing
loss
(
298
with
NSHL
and
5
with
PS
)
,
all
GJB
2
-
negative
,
for
SLC
26
A
4
mutations
and
evaluated
their
clinical
and
radiological
phenotype
.
Among
115
available
HRCT
/
MRI
scans
we
detected
three
MD
(
2
.
6
%
)
,
three
Mondini-like
affections
(
2
.
6
%
)
,
16
EVA
(
13
bilateral
-
19
.
2
%
and
15
.
6
%
respectively
)
and
61
EVA
/
MD
-negative
scans
(
73
.
4
%
)
.
We
found
mutation
(
s
)
in
26
patients
(
8
.
6
%
)
and
biallelic
mutations
in
eight
patients
(
2
.
7
%
)
out
of
303
tested
.
In
18
of
26
(
69
%
)
patients
,
no
second
mutation
could
be
detected
even
using
MLPA
.
The
spectrum
of
SLC
26
A
4
mutations
in
Czech
patients
is
broad
without
any
prevalent
mutation
.
We
detected
21
different
mutations
(
four
novel
)
.
The
most
frequent
mutations
were
p
.
Val
138
Phe
and
p
.
Leu
445
Trp
(
18
%
and
8
.
9
%
of
pathogenic
alleles
respectively
)
.
Among
13
patients
with
bilateral
EVA
,
six
patients
(
50
%
)
carry
biallelic
mutations
.
In
EVA
-
negative
patients
no
biallelic
mutations
were
found
but
4
.
9
%
had
monoallelic
mutations
.
SLC
26
A
4
mutations
are
present
mostly
in
patients
with
EVA
/
MD
and
/
or
progressive
HL
and
those
with
affected
siblings
.
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