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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency.
[congenital adrenal hyperplasia]
Steroid
11
β
-
hydroxylase
deficiency
(
11
β
-
OHD
)
is
the
second
most
common
cause
of
congenital
adrenal
hyperplasia
.
Mutations
in
the
CYP
11
B
1
gene
,
which
encodes
steroid
11
β
-
hydroxylase
,
are
responsible
for
this
autosomal
recessive
disorder
.
Here
,
we
describe
the
molecular
genetics
of
two
previously
reported
male
siblings
in
whom
diagnosis
of
11
β
-
OHD
has
been
established
based
on
their
hormonal
profiles
displaying
high
levels
of
11
-
deoxycortisol
and
hyperandrogenism
.
Both
patients
are
compound
heterozygous
for
a
novel
p
.
E
67
fs
(
c
.
199
delG
)
mutation
in
exon
1
and
a
p
.
R
448
H
(
c
.
1343
G
>
A
)
mutation
in
exon
8
.
We
also
report
the
biochemical
and
molecular
genetics
data
of
one
new
11
β
-
OHD
patient
.
Sequencing
of
the
CYP
11
B
1
gene
reveals
that
this
patient
is
compound
heterozygous
for
a
novel
,
previously
undescribed
p
.
R
141
Q
(
c
.
422
G
>
A
)
mutation
in
exon
3
and
a
p
.
T
318
R
(
c
.
953
C
>
G
)
mutation
in
exon
5
.
All
three
patients
are
of
Croatian
(
Slavic
)
origin
and
there
is
no
self-reported
consanguinity
in
these
two
families
.
Results
of
our
investigation
confirm
that
most
of
the
CYP
11
B
1
mutations
are
private
.
In
order
to
elucidate
the
molecular
basis
for
11
β
-
OHD
in
the
Croatian
/
Slavic
population
,
it
is
imperative
to
perform
CYP
11
B
1
genetic
analysis
in
more
patients
from
this
region
,
since
so
far
only
four
patients
from
three
unrelated
Croatian
families
have
been
analyzed
.
Diseases
Validation
Diseases presenting
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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