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Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
[kallmann syndrome]
The
complexity
of
genetic
testing
in
Kallmann
syndrome
(
KS
)
is
growing
and
costly
.
Thus
,
it
is
important
to
leverage
the
clinical
evaluations
of
KS
patients
to
prioritize
genetic
screening
.
The
objective
of
the
study
was
to
determine
which
reproductive
and
nonreproductive
phenotypes
of
KS
subjects
have
implications
for
specific
gene
mutations
.
Two
hundred
nineteen
KS
patients
were
studied
:
151
with
identified
rare
sequence
variants
(
RSVs
)
in
8
genes
known
to
cause
KS
(
KAL
1
,
NELF
,
CHD
7
,
HS
6
ST
1
,
FGF
8
/
FGFR
1
,
or
PROK
2
/
PROKR
2
)
and
68
KS
subjects
who
remain
RSV
negative
for
all
8
genes
.
Reproductive
and
nonreproductive
phenotypes
within
each
genetic
group
were
measured
.
Male
KS
subjects
with
KAL
1
RSVs
displayed
the
most
severe
reproductive
phenotype
with
testicular
volumes
(
TVs
)
at
presentation
of
1
.
5
±
0
.
1
mL
vs
3
.
7
±
0
.
3
mL
,
P
<
.
05
vs
all
non-
KAL
1
probands
.
In
both
sexes
,
synkinesia
was
enriched
but
not
unique
to
patients
with
KAL
1
RSVs
compared
with
KAL
1
-
negative
probands
(
43
%
vs
12
%
;
P
<
.
05
)
.
Similarly
,
dental
agenesis
and
digital
bone
abnormalities
were
enriched
in
patients
with
RSVs
in
the
FGF
8
/
FGFR
1
signaling
pathway
compared
with
all
other
gene
groups
combined
(
39
%
vs
4
%
and
23
%
vs
0
%
;
P
<
.
05
,
respectively
)
.
Hearing
loss
marked
the
probands
with
CHD
7
RSVs
(
40
%
vs
13
%
in
non-
CHD
7
probands
;
P
<
.
05
)
.
Renal
agenesis
and
cleft
lip
/
palate
did
not
emerge
as
statistically
significant
phenotypic
predictors
.
Certain
clinical
features
in
men
and
women
are
highly
associated
with
genetic
causes
of
KS
.
Synkinesia
(
KAL
1
)
,
dental
agenesis
(
FGF
8
/
FGFR
1
)
,
digital
bony
abnormalities
(
FGF
8
/
FGFR
1
)
,
and
hearing
loss
(
CHD
7
)
can
be
useful
for
prioritizing
genetic
screening
.
Diseases
Validation
Diseases presenting
"digital bone abnormalities were enriched in patients with rsvs in the fgf8"
symptom
kallmann syndrome
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