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[Analysis of CYP21A2 gene mutations in two families with 21-hydroxylase deficiency].
[congenital adrenal hyperplasia]
To
analyze
CYP
21
A
2
gene
mutation
in
two
families
with
21
-
hydroxylase
deficiency
(
21
-
OHD
)
and
to
explore
the
correlation
between
genotype
and
clinical
phenotype
.
Two
patients
with
21
-
OHD
and
their
families
were
investigated
.
CYP
21
A
2
gene
mutation
was
analyzed
by
PCR
and
direct
sequencing
.
The
probands
from
family
1
and
2
have
been
respectively
diagnosed
with
simple
virilizing
and
non-classical
21
-
OHD
.
Both
showed
increased
baseline
serum
17
hydroxyprogesterone
,
testosterone
and
adrenocorticotropic
hormone
(
ACTH
)
,
but
had
no
evidence
of
salt
loss
.
Computer
tomography
revealed
bilateral
adrenal
hyperplasia
in
both
patients
.
After
1
year
treatment
,
both
had
conceived
successfully
.
DNA
sequencing
revealed
that
the
proband
of
family
1
had
compound
heterozygous
mutations
for
IVS
2
13
A
>
G
and
Ile
172
A
sn
.
Her
father
was
heterozygous
for
Ile
172
A
sn
,
whilst
her
mother
and
brother
were
heterozygous
for
IVS
213
A
/
C
>
G
.
In
family
2
,
the
proband
was
heterozygous
for
Arg
341
T
rp
and
Gln
318
X
.
Her
father
,
sister
and
nephew
were
heterozygous
for
Arg
341
T
rp
,
whilst
her
mother
was
heterozygous
for
Gln
318
X
.
her
brother
and
niece
were
non-affected
.
Carriers
of
single
heterozygous
mutations
in
both
families
had
no
clinical
sign
.
In
both
families
,
the
disease
has
been
caused
by
compound
heterozygous
mutations
,
for
which
there
has
been
a
good
genotype-phenotype
agreement
.
Screening
of
CYP
21
A
2
gene
can
facilitate
both
diagnosis
and
genetic
counseling
.
Diseases
Validation
Diseases presenting
"compound heterozygous mutations"
symptom
congenital adrenal hyperplasia
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