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Clinical and molecular characteristics of Pendred syndrome.
[pendred syndrome]
Pendred
syndrome
is
an
autosomal
recessive
disorder
defined
by
sensorineural
deafness
,
goiter
and
a
partial
defect
in
the
organification
of
iodide
.
It
is
caused
by
biallelic
mutations
in
the
SLC
26
A
4
gene
,
which
encodes
pendrin
,
a
multifunctional
anion
exchanger
.
At
the
level
of
the
inner
ear
,
pendrin
is
important
for
the
creation
of
a
normal
endolymph
composition
and
the
maintenance
of
the
endocochlear
potential
.
In
the
thyroid
,
pendrin
is
expressed
at
the
apical
membrane
of
thyroid
follicular
cells
and
it
appears
to
be
involved
in
mediating
iodide
efflux
into
the
lumen
and
/
or
maintenance
of
the
follicular
pH
.
Goiter
development
and
hypothyroidism
vary
among
affected
individuals
and
seem
to
be
partially
dependent
on
nutritional
iodide
intake
.
In
the
kidney
,
pendrin
functions
as
a
chloride
/
bicarbonate
exchanger
.
Elucidation
of
the
molecular
basis
of
Pendred
syndrome
and
the
function
of
pendrin
has
provided
unexpected
novel
insights
into
the
pathophysiology
of
the
inner
ear
,
thyroid
hormone
synthesis
,
and
chloride
/
bicarbonate
exchange
in
the
kidney
.
