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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
[kallmann syndrome]
Transcription
factor
SOX
10
plays
a
role
in
the
maintenance
of
progenitor
cell
multipotency
,
lineage
specification
,
and
cell
differentiation
and
is
a
major
actor
in
the
development
of
the
neural
crest
.
It
has
been
implicated
in
Waardenburg
syndrome
(
WS
)
,
a
rare
disorder
characterized
by
the
association
between
pigmentation
abnormalities
and
deafness
,
but
SOX
10
mutations
cause
a
variable
phenotype
that
spreads
over
the
initial
limits
of
the
syndrome
definition
.
On
the
basis
of
recent
findings
of
olfactory-bulb
agenesis
in
WS
individuals
,
we
suspected
SOX
10
was
also
involved
in
Kallmann
syndrome
(
KS
)
.
KS
is
defined
by
the
association
between
anosmia
and
hypogonadotropic
hypogonadism
due
to
incomplete
migration
of
neuroendocrine
gonadotropin-releasing
hormone
(
GnRH
)
cells
along
the
olfactory
,
vomeronasal
,
and
terminal
nerves
.
Mutations
in
any
of
the
nine
genes
identified
to
date
account
for
only
30
%
of
the
KS
cases
.
KS
can
be
either
isolated
or
associated
with
a
variety
of
other
symptoms
,
including
deafness
.
This
study
reports
SOX
10
loss
-of-function
mutations
in
approximately
one
-
third
of
KS
individuals
with
deafness
,
indicating
a
substantial
involvement
in
this
clinical
condition
.
Study
of
SOX
10
-
null
mutant
mice
revealed
a
developmental
role
of
SOX
10
in
a
subpopulation
of
glial
cells
called
olfactory
ensheathing
cells
.
These
mice
indeed
showed
an
almost
complete
absence
of
these
cells
along
the
olfactory
nerve
pathway
,
as
well
as
defasciculation
and
misrouting
of
the
nerve
fibers
,
impaired
migration
of
GnRH
cells
,
and
disorganization
of
the
olfactory
nerve
layer
of
the
olfactory
bulbs
.
Diseases
Validation
Diseases presenting
"a variety of other symptoms"
symptom
kallmann syndrome
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