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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
"loss-of-function mutations"
symptom
achondroplasia
alpha-thalassemia
aromatase deficiency
child syndrome
cowden syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal adenocarcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hirschsprung disease
kallmann syndrome
kindler syndrome
lamellar ichthyosis
neonatal adrenoleukodystrophy
pendred syndrome
werner syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated