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The genetic basis of triple A (Allgrove) syndrome in a Greek family.
[triple a syndrome]
Triple
A
(
or
Allgrove
)
syndrome
is
an
autosomal
recessive
genetic
disorder
.
Patients
typically
suffer
from
chronic
adrenal
insufficiency
due
to
resistance
to
ACTH
(
Addison
's
disease
)
,
achalasia
of
the
cardia
,
and
defective
tear
formation
(
alacrima
)
.
The
syndrome
is
caused
by
mutations
in
the
AAAS
gene
which
encodes
the
protein
ALADIN
,
a
constituent
of
eukaryotic
nuclear
pore
complexes
.
The
multi-systemic
nature
and
variable
manifestations
of
the
triple
A
syndrome
often
confound
its
diagnosis
and
limit
our
understanding
of
its
exact
pathogenesis
.
We
performed
mutational
screening
of
the
AAAS
gene
in
a
Greek
family
of
four
individuals
,
including
an
affected
propositus
with
typical
symptoms
of
late-onset
triple
A
syndrome
.
Our
results
are
consistent
with
an
autosomal
recessive
pattern
of
inheritance
within
the
family
,
caused
by
a
functional
c
.
43
C
>
A
mutation
in
exon
1
of
the
AAAS
gene
.
All
members
of
the
family
were
also
homozygous
for
a
silent
c
.
855
C
>
T
nucleotide
change
within
exon
9
of
the
AAAS
gene
,
representing
a
common
single
nucleotide
polymorphism
.
The
compromising
c
.
43
C
>
A
mutation
is
predicted
to
cause
a
p
.
Gln
15
L
ys
amino
acid
substitution
in
the
ALADIN
protein
.
However
,
it
has
been
suggested
that
the
functional
impact
of
this
mutation
may
be
more
severe
,
causing
a
shift
in
the
reading
frame
of
AAAS
gene
via
formation
of
an
aberrant
premature
donor
splice
site
within
exon
1
.
We
propose
that
mutational
analysis
of
the
AAAS
gene
should
be
considered
in
adult
patients
with
one
or
more
clinical
signs
of
the
disease
,
as
diagnosis
of
late-onset
cases
can
be
ambiguous
.
Diseases
Validation
Diseases presenting
"late-onset cases"
symptom
congenital adrenal hyperplasia
homocystinuria without methylmalonic aciduria
triple a syndrome
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