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Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
[kallmann syndrome]
Combined
pituitary
hormone
deficiency
(
CPHD
)
,
isolated
hypogonadotropic
hypogonadism
(
IHH
)
,
Kallmann
syndrome
(
KS
)
,
and
septo-
optic
dysplasia
(
SOD
)
are
genetically
related
conditions
caused
by
abnormal
development
of
the
anterior
midline
in
the
forebrain
.
Although
mutations
in
the
fibroblast
growth
factor
receptor
1
(
FGFR
1
)
gene
have
been
implicated
in
the
development
of
IHH
,
KS
,
and
SOD
,
the
relevance
of
FGFR
1
abnormalities
to
CPHD
remains
to
be
elucidated
.
Here
,
we
report
a
Japanese
female
patient
with
CPHD
and
FGFR
1
haploinsufficiency
.
The
patient
was
identified
through
copy-number
analyses
and
direct
sequencing
of
FGFR
1
performed
for
69
patients
with
CPHD
.
The
patient
presented
with
a
combined
deficiency
of
GH
,
LH
and
FSH
,
and
multiple
neurological
abnormalities
.
In
addition
,
normal
TSH
values
along
with
a
low
free
T
4
level
indicated
the
presence
of
central
hypothyroidism
.
Molecular
analyses
identified
a
heterozygous
~
8
.
5
Mb
deletion
involving
56
genes
and
pseudogenes
.
None
of
these
genes
except
FGFR
1
have
been
associated
with
brain
development
.
No
FGFR
1
abnormalities
were
identified
in
the
remaining
68
patients
,
although
two
patients
carried
nucleotide
substitutions
(
p
.
V
102
I
and
p
.
S
107
L
)
that
were
assessed
as
benign
polymorphism
by
in
vitro
functional
assays
.
These
results
indicate
a
possible
role
of
FGFR
1
in
anterior
pituitary
function
and
the
rarity
of
FGFR
1
abnormalities
in
patients
with
CPHD
.
Diseases
Validation
Diseases presenting
"the rarity of fgfr1 abnormalities in patients with cphd"
symptom
kallmann syndrome
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