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Analysis of the AAAS gene in a Japanese patient with triple A syndrome.
[triple a syndrome]
Triple
A
syndrome
,
also
known
as
Allgrove
syndrome
,
is
a
rare
autosomal
recessive
disorder
characterized
by
adrenal
insufficiency
,
achalasia
and
alacrima
.
It
has
recently
been
reported
that
this
syndrome
is
caused
by
mutations
in
the
AAAS
gene
.
In
the
present
study
,
we
analyzed
the
AAAS
gene
in
a
Japanese
patient
with
triple
A
syndrome
.
The
patient
was
a
Japanese
girl
previously
reported
by
Hirose
et
al
.
(
J
Jpn
Pediatr
Soc
102
:
912
-
915
,
1998
)
.
The
parents
of
the
patient
were
first
cousins
.
The
patient
was
confirmed
to
have
alacrima
and
isolated
glucocorticoid
deficiency
at
the
age
of
2
years
.
She
later
developed
achalasia
of
the
cardia
,
and
was
diagnosed
as
having
triple
A
syndrome
.
The
AAAS
gene
was
amplified
by
the
PCR
method
,
and
the
PCR
products
were
directly
sequenced
.
The
patient
was
homozygous
for
a
novel
nonsense
mutation
Q
237
X
,
changing
codon
237
encoding
Gln
(
CAA
)
to
a
stop
codon
(
TAA
)
.
The
parents
were
heterozygous
for
the
Q
237
X
mutation
.
The
AAAS
gene
encodes
a
protein
of
546
amino
acids
,
ALADIN
.
The
Q
237
X
mutation
is
predicted
to
result
in
a
truncated
and
presumably
non-functioning
ALADIN
protein
,
thus
causing
the
clinically
manifest
syndrome
in
the
patient
.
To
our
knowledge
,
this
is
the
first
report
on
AAAS
gene
mutations
in
Japan
.
Diseases
Validation
Diseases presenting
"achalasia of the cardia"
symptom
triple a syndrome
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