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Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
[pendred syndrome]
Congenital
hypothyroidism
,
the
most
frequent
endocrine
congenital
disease
,
can
occur
either
based
on
a
thyroid
hormone
biosynthesis
defect
or
can
predominantly
be
due
to
thyroid
dysgenesis
.
However
,
a
genetic
cause
could
so
far
only
be
identified
in
less
than
10
%
of
patients
with
a
thyroid
dysgenesis
.
Exome
sequencing
was
used
for
the
first
time
to
find
additional
genetic
defects
in
thyroid
dysgenesis
.
In
a
consanguineous
family
with
thyroid
dysgenesis
,
exome
sequencing
was
applied
,
and
findings
were
further
validated
by
Sanger
sequencing
in
a
cohort
of
94
patients
with
thyroid
dysgenesis
.
By
exome
sequencing
we
identified
a
homozygous
missense
mutation
(
p
.
Leu
597
S
er
)
in
the
SLC
26
A
4
gene
of
a
patient
with
hypoplastic
thyroid
tissue
,
who
was
otherwise
healthy
.
In
the
cohort
of
patients
with
thyroid
dysgenesis
,
we
observed
a
second
case
with
a
homozygous
missense
mutation
(
p
.
Gln
413
Arg
)
in
the
SLC
26
A
4
gene
,
who
was
additionally
affected
by
severe
hearing
problems
.
Both
mutations
were
previously
described
as
loss
-of-function
mutations
in
patients
with
Pendred
syndrome
and
nonsyndromic
enlarged
vestibular
aqueduct
.
We
unexpectedly
identified
SLC
26
A
4
mutations
that
were
hitherto
diagnosed
in
thyroid
dyshormonogenesis
patients
,
now
for
the
first
time
in
patients
with
structural
thyroid
defects
.
This
result
resembles
the
historic
description
of
thyroid
atrophy
in
patients
with
the
so
-called
myxedematous
form
of
cretinism
after
severe
iodine
deficiency
.
Most
likely
the
thyroid
defect
of
the
two
homozygous
SLC
26
A
4
gene
mutation
carriers
represents
a
kind
of
secondary
thyroid
atrophy
,
rather
than
a
primary
defect
of
thyroid
development
in
the
sense
of
thyroid
agenesis
.
Our
study
extends
the
variable
clinical
spectrum
of
patients
with
SLC
26
A
4
mutations
and
points
out
the
necessity
to
analyze
the
SLC
26
A
4
gene
in
patients
with
apparent
thyroid
dysgenesis
in
addition
to
the
known
candidate
genes
TSHR
,
PAX
8
,
NKX
2
.
1
,
NKX
2
.
5
,
and
FOXE
1
.
Diseases
Validation
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"first time"
symptom
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