Rare Diseases Symptoms Automatic Extraction
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Identification of HESX1 mutations in Kallmann syndrome.
[kallmann syndrome]
To
determine
whether
HESX
1
mutations
are
present
in
patients
with
idiopathic
hypogonadotropic
hypogonadism
(
IHH
)
/
Kallmann
syndrome
(
KS
)
.
Polymerase
chain
reaction-based
DNA
sequencing
was
performed
on
217
well-characterized
IHH
/
KS
patients
.
Putative
missense
mutations
were
analyzed
by
sorting
intolerant
from
tolerant
(
SIFT
)
and
Clustal
Ω
.
Academic
medical
center
.
Two
hundred
seventeen
patients
with
IHH
/
KS
and
192
controls
.
Deoxyribonucleic
acid
was
extracted
from
patients
and
controls
;
genotype
/
phenotype
comparisons
were
made
.
Deoxyribonucleic
acid
sequence
of
HESX
1
,
SIFT
analysis
,
and
ortholog
alignment
.
Two
novel
heterozygous
missense
mutations
(
p
.
H
42
Y
and
p
.
V
75
L
)
and
previously
reported
heterozygous
missense
mutation
p
.
Q
6
H
in
HESX
1
were
identified
in
3
of
217
patients
(
1
.
4
%
)
.
All
were
males
with
KS
.
Both
p
.
Q
6
H
and
p
.
H
42
Y
were
predicted
to
be
deleterious
by
SIFT
,
whereas
p
.
V
75
L
was
conserved
in
8
of
9
species
.
No
other
IHH
/
KS
gene
mutations
were
present
.
H
ESX
1
mutations
may
cause
KS
in
addition
to
more
severe
phenotypes
.
Our
findings
expand
the
phenotypic
spectrum
of
HESX
1
mutations
in
humans
,
thereby
broadening
its
role
in
development
.
Diseases
Validation
Diseases presenting
"thereby broadening its role in development"
symptom
kallmann syndrome
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