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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
[kallmann syndrome]
Kallmann
syndrome
(
KS
)
,
combined
pituitary
hormone
deficiency
(
CPHD
)
,
and
septo-
optic
dysplasia
(
SOD
)
all
result
from
development
defects
of
the
anterior
midline
in
the
human
forebrain
.
The
objective
of
the
study
was
to
investigate
whether
KS
,
CPHD
,
and
SOD
have
shared
genetic
origins
.
A
total
of
103
patients
with
either
CPHD
(
n
=
35
)
or
SOD
(
n
=
68
)
were
investigated
for
mutations
in
genes
implicated
in
the
etiology
of
KS
(
FGFR
1
,
FGF
8
,
PROKR
2
,
PROK
2
,
and
KAL
1
)
.
Consequences
of
identified
FGFR
1
,
FGF
8
,
and
PROKR
2
mutations
were
investigated
in
vitro
.
Three
patients
with
SOD
had
heterozygous
mutations
in
FGFR
1
;
these
were
either
shown
to
alter
receptor
signaling
(
p
.
S
450
F
,
p
.
P
483
S
)
or
predicted
to
affect
splicing
(
c
.
336
C
>
T
,
p
.
T
112
T
)
.
One
patient
had
a
synonymous
change
in
FGF
8
(
c
.
216
G
>
A
,
p
.
T
72
T
)
that
was
shown
to
affect
splicing
and
ligand
signaling
activity
.
Four
patients
with
CPHD
/
SOD
were
found
to
harbor
heterozygous
rare
loss
-of-function
variants
in
PROKR
2
(
p
.
R
85
G
,
p
.
R
85
H
,
p
.
R
268
C
)
.
Mutations
in
FGFR
1
/
FGF
8
/
PROKR
2
contributed
to
7
.
8
%
of
our
patients
with
CPHD
/
SOD
.
These
data
suggest
a
significant
genetic
overlap
between
conditions
affecting
the
development
of
anterior
midline
in
the
human
forebrain
.
Diseases
Validation
Diseases presenting
"anterior midline in the human forebrain"
symptom
kallmann syndrome
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