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Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
[kallmann syndrome]
Loss
-of-function
mutations
in
FGFR
1
have
been
identified
in
approximately
10
%
of
the
Kallmann
syndrome
(
KS
)
patients
.
Previous
reports
have
focused
mainly
on
olfactory
,
reproductive
,
and
some
other
features
such
as
cleft
lip
/
palate
and
dental
agenesis
.
Given
the
ubiquitous
expression
of
FGFR
1
during
development
,
other
abnormal
phenotypes
might
,
however
,
have
been
overlooked
in
these
patients
.
Here
,
we
demonstrate
skeletal
phenotypic
characterization
of
patients
presented
with
KS
and
FGFR
1
mutations
.
U
sing
the
Sanger
DNA
sequencing
technique
a
cohort
of
29
KS
patients
was
screened
.
Here
,
we
report
on
5
KS
patients
who
carry
FGFR
1
mutations
(
Gly
270
A
sp
,
Gly
97
S
er
,
Met
161
T
hr
,
Ser
685
Phe
and
Ala
167
S
er
/
Ala
167
S
er
)
.
Three
patients
presented
with
skeletal
abnormalities
,
i
.
e
.
spine
(
hemivertebra
and
butterfly
vertebra
)
and
limb
(
oligodactyly
of
the
feet
,
fusion
of
the
4
th
and
5
th
metacarpal
bones
)
malformations
in
two
patients
and
one
patient
,
respectively
.
The
hand
phenotype
found
in
the
patient
can
not
be
thought
of
as
a
counter-
type
of
the
hand
phenotype
resulting
from
FGFR
1
gain-of-function
mutations
.
The
skeletal
anomalies
identified
in
the
3
KS
patients
are
close
to
those
observed
in
Fgfr
1
conditional
knockout
mice
.
This
study
demonstrates
that
FGFR
1
loss
-of-function
mutations
can
be
associated
with
skeletal
abnormalities
also
in
humans
.
Further
investigations
in
KS
patients
who
carry
FGFR
1
mutations
are
needed
to
evaluate
the
prevalence
of
skeletal
defects
in
this
genetic
form
of
KS
.
Conversely
,
the
presence
of
bone
malformations
in
a
KS
patient
should
direct
the
geneticist
towards
a
search
for
mutations
in
FGFR
1
.
Diseases
Validation
Diseases presenting
"mutations in fgfr1"
symptom
dentin dysplasia
kallmann syndrome
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