Rare Diseases Symptoms Automatic Extraction
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PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.
[kallmann syndrome]
Isolated
congenital
anosmia
(
ICA
)
is
a
rare
phenotype
defined
as
absent
recall
of
any
olfactory
sensations
since
birth
and
the
absence
of
any
disease
known
to
cause
anosmia
.
Although
most
cases
of
ICA
are
sporadic
,
reports
of
familial
cases
suggest
a
genetic
cause
.
ICA
due
to
olfactory
bulb
agenesis
and
associated
to
hypogonadotropic
hypogonadism
defines
Kallmann
syndrome
(
KS
)
,
in
which
several
gene
defects
have
been
described
.
In
KS
families
,
the
phenotype
may
be
restricted
to
ICA
.
We
therefore
hypothesized
that
mutations
in
KS
genes
cause
ICA
in
patients
,
even
in
the
absence
of
family
history
of
reproduction
disorders
.
In
25
patients
with
ICA
and
olfactory
bulb
agenesis
,
a
detailed
phenotype
analysis
was
conducted
and
the
coding
sequences
of
KAL
1
,
FGFR
1
,
FGF
8
,
PROKR
2
,
and
PROK
2
were
sequenced
.
Three
PROKR
2
mutations
previously
described
in
KS
and
one
new
PROK
2
mutation
were
found
.
Investigation
of
the
families
showed
incomplete
penetrance
of
these
mutations
.
This
study
is
the
first
to
report
genetic
causes
of
ICA
and
indicates
that
KS
genes
must
be
screened
in
patients
with
ICA
.
It
also
confirms
the
considerable
complexity
of
GNRH
neuron
development
in
humans
.