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A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.
[triple a syndrome]
The
clinical
and
molecular
data
of
a
patient
with
triple
A
syndrome
are
reported
.
A
21
-
year
-old
male
who
was
diagnosed
for
adrenal
insufficiency
at
the
age
of
2
years
after
a
severe
attack
of
adrenal
crisis
.
At
the
age
of
4
years
,
achalasia
and
alacrima
were
diagnosed
.
Puberty
started
at
the
age
of
17
years
.
At
the
same
time
,
symptoms
of
central
,
peripheral
,
and
autonomic
nervous
system
dysfunction
were
noted
.
Later
on
,
at
the
age
of
20
years
,
a
bone
age
delay
of
6
years
and
severe
osteoporosis
was
diagnosed
.
A
compound
heterozygous
AAAS
mutation
consisting
of
two
mutations
was
found
:
a
C
>
T
transition
in
exon
7
resulting
in
a
change
of
arginine
at
amino
acid
position
194
into
a
stop
codon
(
Arg
194
X
)
at
one
allele
,
and
a
C
>
T
transition
in
exon
12
resulting
in
a
change
of
glutamine
at
amino
acid
position
387
into
a
stop
codon
(
Gln
387
X
)
on
the
other
allele
.
The
mutation
in
exon
7
(
p
.
R
194
X
)
of
the
AAAS
gene
is
a
novel
mutation
which
has
not
been
found
in
any
other
family
so
far
,
whereas
the
second
was
already
found
in
some
other
families
.
This
case
adds
to
the
clinical
and
molecular
spectrum
of
triple
A
syndrome
and
may
provide
a
new
insight
into
the
functions
of
AAAS
gene
.