Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
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Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.
[triple a syndrome]
To
investigate
the
phenotype
and
genotype
of
3
unrelated
children
with
triple
A
syndrome
from
southern
Turkey
.
The
coding
sequence
of
the
AAAS
gene
was
sequenced
including
exon-intron
boundaries
.
Haplotype
analysis
using
markers
from
AAAS
region
was
performed
in
order
to
assess
potential
founder
effects
.
In
all
3
patients
,
the
identical
nonsense
mutation
(
R
478
X
)
in
exon
16
of
the
AAAS
gene
was
identified
.
The
patients
who
may
be
distantly
related
appeared
phenotypically
similar
with
the
classical
triad
of
the
triple
A
syndrome
(
adrenal
insufficiency
,
alacrima
and
achalasia
)
with
dermatological
manifestations
while
lacking
neurological
features
except
for
mild
mental
retardation
.
The
R
478
X
mutation
tends
to
result
in
a
rather
severe
phenotype
although
genotype-phenotype
relationships
can
not
be
drawn
due
to
the
small
number
of
patients
.