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A random Abstract
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Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
[triple a syndrome]
The
triple
A
syndrome
is
an
autosomal
recessive
disorder
characterized
by
adrenal
insufficiency
,
alacrima
,
achalasia
,
and
impairment
of
the
central
,
peripheral
,
and
autonomic
nervous
system
functions
.
The
disease
is
caused
by
mutations
in
the
AAAS
gene
on
chromosome
12
q
13
encoding
the
nuclear
pore
protein
ALADIN
.
In
the
present
study
,
we
report
three
siblings
with
triple
A
syndrome
caused
by
a
compound
heterozygous
mutation
consisting
of
a
novel
Val
421
frameshift
mutation
in
exon
14
and
a
previously
described
Ser
236
P
ro
(
T
>
C
transition
)
missense
mutation
in
exon
8
.
The
second
mutation
is
one
of
the
most
frequent
mutations
in
the
AAAS
gene
,
occurring
in
17
independent
patients
from
different
countries
.
With
haplotype
analysis
,
we
demonstrate
a
founder
effect
for
at
least
13
of
the
17
patients
.
We
conclude
that
,
although
very
helpful
in
establishing
the
final
diagnosis
of
triple
A
syndrome
,
DNA
analysis
is
not
useful
for
the
prediction
of
the
clinical
expression
and
outcome
of
the
disorder
.
Further
investigations
are
necessary
to
evaluate
the
correlation
between
genotype
and
clinical
phenotype
in
the
triple
A
syndrome
.
Diseases
Validation
Diseases presenting
"a compound heterozygous mutation"
symptom
triple a syndrome
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