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Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.
[triple a syndrome]
Triple
A
syndrome
,
also
known
as
Allgrove
syndrome
,
is
a
rare
autosomal
recessive
disorder
characterized
by
three
cardinal
symptoms
:
adrenal
insufficiency
due
to
ACTH
insensitivity
,
achalasia
and
alacrima
.
Various
progressive
neurological
abnormalities
and
skin
changes
have
been
described
in
association
with
the
syndrome
.
The
disease
is
caused
by
mutation
in
the
AAAS
gene
on
chromosome
12
q
13
.
AAAS
encodes
a
protein
named
ALADIN
which
is
part
of
the
nuclear
pore
complex
(
NPC
)
.
The
mislocalization
of
mutated
ALADIN
proteins
in
the
cytoplasm
and
/
or
the
nucleus
results
in
an
impaired
protein
function
.
Phenotypes
of
previously
reported
patients
with
triple
A
syndrome
varied
within
and
between
affected
families
so
that
no
genotype-phenotype
could
be
established
.
Genetic
analysis
was
performed
in
two
unrelated
patients
,
their
parents
and
one
sister
.
AAAS
coding
sequences
including
exon-intron
boundaries
were
amplified
and
sequenced
using
an
ABI
3100
sequencing
machine
.
We
present
two
unrelated
Swiss
patients
with
triple
A
syndrome
demonstrating
similar
phenotypic
characteristics
.
Both
showed
a
progression
of
the
disease
presenting
with
adrenal
insufficiency
and
alacrima
in
early
childhood
.
At
the
age
between
30
-
40
years
they
developed
symptomatic
achalasia
.
The
pattern
and
severity
of
progressive
neurological
and
autonomic
dysfunction
was
comparable
.
In
both
patients
molecular
genetic
analysis
revealed
an
identical
novel
homozygous
mutation
(
c
.
618
delC
,
p
.
Ser
207
fs
)
in
the
AAAS
gene
.
R
ecent
genotype
/
phenotype
studies
showed
a
marked
inter-
and
intrafamiliar
variability
in
triple
A
syndrome
.
Here
we
present
a
rather
tight
genotype
/
phenotype
correlation
in
two
unrelated
patients
carrying
the
identical
novel
p
.
Ser
207
fs
mutation
in
the
AAAS
gene
.