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Mutations in FEZF1 cause Kallmann syndrome.
[kallmann syndrome]
Gonadotropin-releasing
hormone
(
GnRH
)
neurons
originate
outside
the
CNS
in
the
olfactory
placode
and
migrate
into
the
CNS
,
where
they
become
integral
components
of
the
hypothalamic
-
pituitary
-
gonadal
(
HPG
)
axis
.
Disruption
of
this
migration
results
in
Kallmann
syndrome
(
KS
)
,
which
is
characterized
by
anosmia
and
pubertal
failure
due
to
hypogonadotropic
hypogonadism
.
Using
candidate
-
gene
screening
,
autozygosity
mapping
,
and
whole-exome
sequencing
in
a
cohort
of
30
individuals
with
KS
,
we
searched
for
genes
newly
associated
with
KS
.
We
identified
homozygous
loss
-of-function
mutations
in
FEZF
1
in
two
independent
consanguineous
families
each
with
two
affected
siblings
.
The
FEZF
1
product
is
known
to
enable
axons
of
olfactory
receptor
neurons
(
ORNs
)
to
penetrate
the
CNS
basal
lamina
in
mice
.
Because
a
subset
of
axons
in
these
tracks
is
the
migratory
pathway
for
GnRH
neurons
,
in
FEZF
1
deficiency
,
GnRH
neurons
also
fail
to
enter
the
brain
.
These
results
indicate
that
FEZF
1
is
required
for
establishment
of
the
central
component
of
the
HPG
axis
in
humans
.
Diseases
Validation
Diseases presenting
"homozygous loss-of-function mutations"
symptom
kallmann syndrome
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