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Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
[kallmann syndrome]
Congenital
hypogonadotropic
hypogonadism
(
HH
)
,
a
rare
disorder
characterized
by
absent
,
partial
,
or
delayed
puberty
,
can
be
caused
by
the
lack
or
deficient
number
of
hypothalamic
gonadotropin-releasing
hormone
(
GnRH
)
neurons
.
SEMA
3
A
was
recently
implicated
in
the
etiology
of
the
disorder
,
and
Sema
7
A
-
deficient
mice
have
a
reduced
number
of
GnRH
neurons
in
their
brains
.
S
EMA
3
A
and
SEMA
7
A
were
screened
by
Sanger
sequencing
in
altogether
50
Finnish
HH
patients
(
34
with
Kallmann
syndrome
(
KS
;
HH
with
hyposmia
/
anosmia
)
and
16
with
normosmic
HH
(
nHH
)
)
.
In
20
patients
,
mutation
(
s
)
had
already
been
found
in
genes
known
to
be
implicated
in
congenital
HH
.
Three
heterozygous
variants
(
c
.
458
A
>
G
(
p
.
Asn
153
Ser
)
,
c
.
1253
A
>
G
(
p
.
Asn
418
S
er
)
,
and
c
.
1303
G
>
A
(
p
.
Val
435
Ile
)
)
were
found
in
SEMA
3
A
in
three
KS
patients
,
two
of
which
also
had
a
mutation
in
FGFR
1
.
Two
rare
heterozygous
variants
(
c
.
442
C
>
T
(
p
.
Arg
148
Trp
)
and
c
.
1421
G
>
A
(
p
.
Arg
474
Gln
)
)
in
SEMA
7
A
were
found
in
one
male
nHH
patient
with
a
previously
identified
KISS
1
R
nonsense
variant
and
one
male
KS
patient
with
a
previously
identified
mutation
in
KAL
1
,
respectively
.
Our
results
suggest
that
heterozygous
missense
variants
in
SEMA
3
A
and
SEMA
7
A
may
modify
the
phenotype
of
KS
but
most
likely
are
not
alone
sufficient
to
cause
the
disorder
.
Diseases
Validation
Diseases presenting
"rare heterozygous variants"
symptom
kallmann syndrome
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