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Functional and structural analysis of four novel mutations of CYP21A2 gene in italian patients with 21-hydroxylase deficiency.
[congenital adrenal hyperplasia]
Congenital
adrenal
hyperplasia
(
CAH
)
is
an
autosomal
recessive
disorder
mainly
caused
by
defects
in
the
21
-
hydroxylase
gene
(
CYP
21
A
2
)
,
coding
for
the
enzyme
21
-
hydroxylase
(
21
-
OH
)
.
About
95
%
of
the
mutations
arise
from
gene
conversion
between
CYP
21
A
2
and
the
inactive
pseudogene
CYP
21
A
1
P
:
only
5
%
are
novel
CYP
21
A
2
mutations
,
in
which
functional
analysis
of
mutant
enzymes
has
been
helpful
to
correlate
genotype-phenotype
.
In
the
present
study
,
we
describe
3
novel
point
mutations
(
p
.
L
122
P
,
p
.
Q
481
X
,
and
p
.
E
161
X
)
in
3
Italian
patients
with
CAH
:
the
fourth
mutation
(
p
.
M
150
R
)
was
found
in
the
carrier
state
.
Molecular
modeling
suggests
a
major
impact
on
21
-
hydroxylase
activity
,
and
functional
analysis
after
expression
in
COS
-
7
cells
confirms
reduced
enzymatic
activity
of
the
mutant
enzymes
.
Only
the
p
.
M
150
R
mutation
affected
the
activity
to
a
minor
extent
,
associated
with
NC
CAH
.
CYP
21
A
2
genotyping
and
functional
characterization
of
each
disease-causing
mutation
has
relevance
both
for
treatment
and
genetic
counseling
to
the
patients
.
Diseases
Validation
Diseases presenting
"defects in the 21-hydroxylase gene"
symptom
congenital adrenal hyperplasia
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