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Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
[kallmann syndrome]
Patients
with
Kallmann
syndrome
(
KS
;
congenital
hypogonadotropic
hypogonadism
and
decreased
/
absent
sense
of
smell
)
,
septo-
optic
dysplasia
(
SOD
)
,
or
holoprosencephaly
(
HPE
)
reportedly
have
midline
defects
.
In
this
study
,
we
investigate
a
genetic
overlap
between
KS
,
SOD
,
and
HPE
.
Nineteen
subjects
(
18
males
,
1
female
)
with
KS
and
without
mutations
in
the
known
KS
genes
were
screened
for
mutations
in
SOX
2
,
SHH
,
SIX
3
,
TGIF
1
,
TDGF
1
,
FOXH
1
,
GLI
2
,
and
GLI
3
.
One
male
carried
2
heterozygous
missense
changes
,
one
in
SIX
3
(
c
.
428
G
>
A
,
p
.
G
143
D
)
and
the
other
in
GLI
2
(
c
.
2509
G
>
A
,
p
.
E
837
K
)
.
Both
of
these
genes
have
been
implicated
in
the
etiology
of
HPE
and
neither
of
these
changes
were
present
in
200
control
subjects
.
Other
variants
found
among
the
subjects
were
known
polymorphisms
.
KS
and
HPE
may
display
a
genetic
overlap
.
The
involvement
of
genes
implicated
in
the
etiology
of
midline
defects
in
patients
with
KS
warrants
further
studies
.
Diseases
Validation
Diseases presenting
"one in six3"
symptom
kallmann syndrome
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