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SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
is
a
genetic
disorder
associating
pubertal
failure
with
congenitally
absent
or
impaired
sense
of
smell
.
KS
is
related
to
defective
neuronal
development
affecting
both
the
migration
of
olfactory
nerve
endings
and
GnRH
neurons
.
The
discovery
of
several
genetic
mutations
responsible
for
KS
led
to
the
identification
of
signaling
pathways
involved
in
these
processes
,
but
the
mutations
so
far
identified
account
for
only
30
%
of
cases
of
KS
.
Here
,
we
attempted
to
identify
new
genes
responsible
for
KS
by
using
a
pan-genomic
approach
.
From
a
cohort
of
120
KS
patients
,
we
selected
48
propositi
with
no
mutations
in
known
KS
genes
.
They
were
analyzed
by
comparative
genomic
hybridization
array
,
using
Agilent
105
K
oligonucleotide
chips
with
a
mean
resolution
of
50
kb
.
One
propositus
was
found
to
have
a
heterozygous
deletion
of
213
kb
at
locus
7
q
21
.
11
,
confirmed
by
real-time
qPCR
,
deleting
11
of
the
17
SEMA
3
A
exons
.
This
deletion
cosegregated
in
the
propositus
'
family
with
the
KS
phenotype
,
that
was
transmitted
in
autosomal
dominant
fashion
and
was
not
associated
with
other
neurological
or
non-neurological
clinical
disorders
.
SEMA
3
A
codes
for
semaphorin
3
A
,
a
protein
that
interacts
with
neuropilins
.
Mice
lacking
semaphorin
3
A
expression
have
been
showed
to
have
a
Kallmann-like
phenotype
.
SEMA
3
A
is
therefore
a
new
gene
whose
loss
-of-function
is
involved
in
KS
.
These
findings
validate
the
specific
role
of
semaphorin
3
A
in
the
development
of
the
olfactory
system
and
in
neuronal
control
of
puberty
in
humans
.
Diseases
Validation
Diseases presenting
"defective neuronal development"
symptom
kallmann syndrome
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