Rare Diseases Symptoms Automatic Extraction
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The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
and
CHARGE
syndrome
are
rare
heritable
disorders
in
which
anosmia
and
hypogonadotropic
hypogonadism
co
-occur
.
KS
is
genetically
heterogeneous
,
and
there
are
at
least
eight
genes
involved
in
its
pathogenesis
,
whereas
CHARGE
syndrome
is
caused
by
autosomal
dominant
mutations
in
only
one
gene
,
the
CHD
7
gene
.
Two
independent
studies
showed
that
CHD
7
mutations
can
also
be
found
in
a
minority
of
KS
patients
.
We
aimed
to
investigate
whether
CHD
7
mutations
can
give
rise
to
isolated
KS
or
whether
additional
features
of
CHARGE
syndrome
always
occur
.
We
performed
CHD
7
analysis
in
a
cohort
of
36
clinically
well-characterized
Dutch
patients
with
KS
but
without
mutations
in
KAL
1
and
with
known
status
for
the
KS
genes
with
incomplete
penetrance
,
FGFR
1
,
PROK
2
,
PROKR
2
,
and
FGF
8
.
We
identified
three
heterozygous
CHD
7
mutations
.
The
CHD
7
-
positive
patients
were
carefully
reexamined
and
were
all
found
to
have
additional
features
of
CHARGE
syndrome
.
The
yield
of
CHD
7
analysis
in
patients
with
isolated
KS
seems
very
low
but
increases
when
additional
CHARGE
features
are
present
.
Therefore
,
we
recommend
performing
CHD
7
analysis
in
KS
patients
who
have
at
least
two
additional
CHARGE
features
or
semicircular
canal
anomalies
.
Identifying
a
CHD
7
mutation
has
important
clinical
implications
for
the
surveillance
and
genetic
counseling
of
patients
.