Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"heterozygous missense mutation"
symptom
alexander disease
aniridia
benign recurrent intrahepatic cholestasis
cadasil
epidermolysis bullosa simplex
kallmann syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom