Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.
[pendred syndrome]
Hearing
loss
is
one
of
the
most
widespread
sensory
disorders
.
The
incidence
of
deafness
in
general
population
is
1
:
1000
newborns
.
About
one
half
of
the
cases
of
the
congenital
sensorineural
hearing
loss
(
SNHL
)
is
inherited
.
Recessive
mutations
in
the
gap
junction
beta
2
(
GJB
2
)
gene
are
the
most
common
genetic
causes
of
the
nonsyndromic
SNHL
.
The
GJB
2
encodes
a
protein
connexin
26
which
forms
a
subunit
of
gap
junction
essential
for
the
correct
function
of
the
inner
ear
.
The
syndromic
SNHL
is
associated
with
a
wide
range
of
other
symptoms
,
which
encompass
also
dysfunctions
of
endocrine
organs
.
The
Pendred
syndrome
associated
with
the
hearing
impairment
is
characterized
by
a
prelingual
,
bilateral
sever
to
profound
SNHL
,
goiter
,
and
iodine
organification
defect
.
It
is
an
autosomal
recessive
disorder
,
which
develops
due
to
mutations
in
pendrin
,
an
anion
channel
encoded
by
SLC
26
A
4
gene
.
Another
important
type
of
syndromic
hearing
loss
is
the
Maternally
Inherited
Diabetes
and
Deafness
syndrome
,
which
is
caused
by
several
mitochondrial
DNA
mutations
.
These
mutations
are
clinically
manifested
by
a
hearing
impairment
with
development
of
the
diabetes
in
the
adult
age
.
Hearing
impairment
occurs
during
puberty
when
sensation
of
high
frequency
tones
is
affected
following
with
further
progress
to
profound
bilateral
sensorineural
hearing
impairment
in
the
whole
frequency
range
.
This
review
deals
with
the
molecular
mechanisms
of
common
genetic
causes
of
the
hereditary
SNHL
along
with
the
selected
endocrinopathies
emphasizing
that
the
DNA
analyses
along
with
the
functional
studies
significantly
contribute
to
the
early
SNHL
diagnosis
followed
by
personalized
therapy
and
genetic
counseling
.
