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Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.
[aromatase deficiency]
Aromatase
deficiency
in
women
is
a
rare
46
,
XX
disorder
of
sex
differentiation
characterized
by
a
defect
in
catalysing
oestrogens
from
androgens
.
To
better
understand
this
rare
disorder
,
we
searched
for
mutations
in
the
CYP
19
A
1
gene
of
an
affected
girl
and
analysed
their
functional
consequences
.
We
examined
a
girl
presenting
with
clitoral
hypertrophy
at
birth
and
mild
maternal
virilization
(
acne
)
during
pregnancy
.
A
genotype-phenotype
correlation
was
found
.
By
direct
sequencing
of
the
CYP
19
A
1
gene
,
we
identified
a
heterozygous
A
>
G
mutation
(
c
.
A
1374
G
)
mutation
in
exon
IX
,
leading
to
the
missense
p
.
N
411
S
in
the
P
450
A
ro
protein
and
a
heterozygous
placenta
promoter
variant
-
41
base
pairs
upstream
of
exon
I
.
1
.
Aromatase
enzyme
activity
was
completely
lost
when
the
mutant
p
.
N
411
S
protein
was
expressed
in
COS
-
1
cells
.
The
placenta
promoter
variant
had
a
significantly
reduced
(
-
50
%
)
transactivation
ability
compared
to
wild-
type
.
Our
data
describe
a
novel
loss
-of-function
missense
mutation
in
CYP
19
A
1
combined
with
the
first
-described
variant
of
the
placenta
promoter
with
a
significant
reduction
in
function
,
likely
to
be
the
molecular
basis
of
this
rare
46
,
XX
disorder
of
sex
development
.
This
seems
to
represent
a
unique
case
of
aromatase
deficiency
occurring
in
utero
only
.
Diseases
Validation
Diseases presenting
"likely to be the molecular basis of this rare 46"
symptom
aromatase deficiency
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